Canonical Allele Identifier: CA394879659
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16161459G>T , CM000678.2:g.16161459G>T GRCh38
NC_000016.9:g.16255316G>T , CM000678.1:g.16255316G>T GRCh37
NC_000016.8:g.16162817G>T NCBI36
NG_007558.2:g.67013C>A
NG_007558.3:g.67159C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3612C>A ENSP00000483331.2:p.Phe1204Leu
ENST00000205557.12:c.3612C>A MANE Select ENSP00000205557.7:p.Phe1204Leu
ENST00000640696.1:c.426C>A ENSP00000492197.1:p.Phe142Leu
ENST00000205557.11:c.3612C>A ENSP00000205557.7:p.Phe1204Leu
ENST00000456970.6:c.3237C>A ENSP00000405002.2:n.3237C>A
ENST00000622290.4:c.*821C>A ENSP00000483331.1:n.*821C>A
NM_001171.5:c.3612C>A NP_001162.4:p.Phe1204Leu
XM_011522479.1:c.3579C>A XP_011520781.1:p.Phe1193Leu
XM_011522480.1:c.3270C>A XP_011520782.1:p.Phe1090Leu
XM_011522481.1:c.3270C>A XP_011520783.1:p.Phe1090Leu
XR_932836.1:n.3847C>A
XR_932837.1:n.3648C>A
XR_932838.1:n.3648C>A
XR_933133.1:n.260-1237G>T
XR_933134.1:n.607-1237G>T
NM_001351800.1:c.3270C>A NP_001338729.1:p.Phe1090Leu
NR_147784.1:n.3274C>A
XM_011522479.2:c.3579C>A XP_011520781.1:p.Phe1193Leu
XM_011522481.3:c.3270C>A XP_011520783.1:p.Phe1090Leu
XM_017023212.1:c.3444C>A XP_016878701.1:p.Phe1148Leu
XM_017023214.1:c.3412C>A XP_016878703.1:p.Leu1138Ile
XM_024450261.1:c.3648C>A XP_024306029.1:p.Phe1216Leu
XR_932836.2:n.3793C>A
XR_932837.3:n.3593C>A
XR_932838.3:n.3593C>A
NM_001171.6:c.3612C>A MANE Select NP_001162.5:p.Phe1204Leu