Canonical Allele Identifier: CA389049788
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23896883G>A (hg19) chr14:g.23427674G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427674G>A , CM000676.2:g.23427674G>A GRCh38
NC_000014.8:g.23896883G>A , CM000676.1:g.23896883G>A GRCh37
NC_000014.7:g.22966723G>A NCBI36
NG_007884.1:g.12988C>T , LRG_384:g.12988C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.1799C>T MANE Select ENSP00000347507.3:p.Pro600Leu
ENST00000355349.3:c.1799C>T ENSP00000347507.3:p.Pro600Leu
NM_000257.3:c.1799C>T NP_000248.2:p.Pro600Leu
XR_245686.3:n.1905C>T
XM_017021340.1:c.1799C>T XP_016876829.1:p.Pro600Leu
NM_000257.4:c.1799C>T MANE Select NP_000248.2:p.Pro600Leu
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