Canonical Allele Identifier: CA389035865
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582517
ClinVar RCV Id: RCV003333509 RCV003333505 RCV003333507 RCV003333506 RCV003333508
dbSNP Id: rs1326035646
gnomAD v2: 14-23884449-C-T
gnomAD v4: 14-23415240-C-T
MyVariant Identifiers: chr14:g.23884449C>T (hg19) chr14:g.23415240C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415240C>T , CM000676.2:g.23415240C>T GRCh38
NC_000014.8:g.23884449C>T , CM000676.1:g.23884449C>T GRCh37
NC_000014.7:g.22954289C>T NCBI36
NG_007884.1:g.25422G>A , LRG_384:g.25422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5314G>A MANE Select ENSP00000347507.3:p.Glu1772Lys
ENST00000355349.3:c.5314G>A ENSP00000347507.3:p.Glu1772Lys
NM_000257.3:c.5314G>A NP_000248.2:p.Glu1772Lys
XM_017021340.1:c.5314G>A XP_016876829.1:p.Glu1772Lys
NM_000257.4:c.5314G>A MANE Select NP_000248.2:p.Glu1772Lys
Search 100 bp 5'
Search 100 bp 3'