Canonical Allele Identifier: CA389049025
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699911
ClinVar RCV Id: RCV003586562
MyVariant Identifiers: chr14:g.23895185T>A (hg19) chr14:g.23425976T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425976T>A , CM000676.2:g.23425976T>A GRCh38
NC_000014.8:g.23895185T>A , CM000676.1:g.23895185T>A GRCh37
NC_000014.7:g.22965025T>A NCBI36
NG_007884.1:g.14686A>T , LRG_384:g.14686A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2150A>T MANE Select ENSP00000347507.3:p.Asp717Val
ENST00000355349.3:c.2150A>T ENSP00000347507.3:p.Asp717Val
NM_000257.3:c.2150A>T NP_000248.2:p.Asp717Val
XR_245686.3:n.2256A>T
XM_017021340.1:c.2150A>T XP_016876829.1:p.Asp717Val
NM_000257.4:c.2150A>T MANE Select NP_000248.2:p.Asp717Val
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Search 100 bp 3'