Canonical Allele Identifier: CA485622586
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23892804G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423595G>C , CM000676.2:g.23423595G>C GRCh38
NC_000014.8:g.23892804G>C , CM000676.1:g.23892804G>C GRCh37
NC_000014.7:g.22962644G>C NCBI36
NG_007884.1:g.17067C>G , LRG_384:g.17067C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3051C>G MANE Select ENSP00000347507.3:p.Val1017=
ENST00000355349.3:c.3051C>G ENSP00000347507.3:p.Val1017=
NM_000257.3:c.3051C>G NP_000248.2:p.Val1017=
XR_245686.3:n.3157C>G
XM_017021340.1:c.3051C>G XP_016876829.1:p.Val1017=
NM_000257.4:c.3051C>G MANE Select NP_000248.2:p.Val1017=