Canonical Allele Identifier: CA394879678
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16161461A>G , CM000678.2:g.16161461A>G GRCh38
NC_000016.9:g.16255318A>G , CM000678.1:g.16255318A>G GRCh37
NC_000016.8:g.16162819A>G NCBI36
NG_007558.2:g.67011T>C
NG_007558.3:g.67157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3610T>C ENSP00000483331.2:p.Phe1204Leu
ENST00000205557.12:c.3610T>C MANE Select ENSP00000205557.7:p.Phe1204Leu
ENST00000640696.1:c.424T>C ENSP00000492197.1:p.Phe142Leu
ENST00000205557.11:c.3610T>C ENSP00000205557.7:p.Phe1204Leu
ENST00000456970.6:c.3235T>C ENSP00000405002.2:n.3235T>C
ENST00000622290.4:c.*819T>C ENSP00000483331.1:n.*819T>C
NM_001171.5:c.3610T>C NP_001162.4:p.Phe1204Leu
XM_011522479.1:c.3577T>C XP_011520781.1:p.Phe1193Leu
XM_011522480.1:c.3268T>C XP_011520782.1:p.Phe1090Leu
XM_011522481.1:c.3268T>C XP_011520783.1:p.Phe1090Leu
XR_932836.1:n.3845T>C
XR_932837.1:n.3646T>C
XR_932838.1:n.3646T>C
XR_933133.1:n.260-1235A>G
XR_933134.1:n.607-1235A>G
NM_001351800.1:c.3268T>C NP_001338729.1:p.Phe1090Leu
NR_147784.1:n.3272T>C
XM_011522479.2:c.3577T>C XP_011520781.1:p.Phe1193Leu
XM_011522481.3:c.3268T>C XP_011520783.1:p.Phe1090Leu
XM_017023212.1:c.3442T>C XP_016878701.1:p.Phe1148Leu
XM_017023214.1:c.3410T>C XP_016878703.1:p.Leu1137Pro
XM_024450261.1:c.3646T>C XP_024306029.1:p.Phe1216Leu
XR_932836.2:n.3791T>C
XR_932837.3:n.3591T>C
XR_932838.3:n.3591T>C
NM_001171.6:c.3610T>C MANE Select NP_001162.5:p.Phe1204Leu