Canonical Allele Identifier: CA389040012

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417512G>C , CM000676.2:g.23417512G>C GRCh38
NC_000014.8:g.23886721G>C , CM000676.1:g.23886721G>C GRCh37
NC_000014.7:g.22956561G>C NCBI36
NG_007884.1:g.23150C>G , LRG_384:g.23150C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4344C>G (MYH7) MANE Select ENSP00000347507.3:p.Asn1448Lys
ENST00000355349.3:c.4344C>G (MYH7) ENSP00000347507.3:p.Asn1448Lys
NM_000257.3:c.4344C>G (MYH7) NP_000248.2:p.Asn1448Lys
NR_126491.1:n.814-21G>C (MHRT)
XM_017021340.1:c.4344C>G (MYH7) XP_016876829.1:p.Asn1448Lys
NM_000257.4:c.4344C>G (MYH7) MANE Select NP_000248.2:p.Asn1448Lys