Canonical Allele Identifier: CA015584
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 181270
ClinVar RCV Id: RCV000158681 RCV000687792 RCV001176076 RCV001290657 RCV002336359
dbSNP Id: rs377461670
ExAC: 14:23884966 G / A
gnomAD v2: 14-23884966-G-A
gnomAD v4: 14-23415757-G-A
MyVariant Identifiers: chr14:g.23884966G>A (hg19) chr14:g.23415757G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415757G>A , CM000676.2:g.23415757G>A GRCh38
NC_000014.8:g.23884966G>A , CM000676.1:g.23884966G>A GRCh37
NC_000014.7:g.22954806G>A NCBI36
NG_007884.1:g.24905C>T , LRG_384:g.24905C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5029C>T (MYH7) MANE Select ENSP00000347507.3:p.Arg1677Cys
ENST00000355349.3:c.5029C>T (MYH7) ENSP00000347507.3:p.Arg1677Cys
NM_000257.3:c.5029C>T (MYH7) NP_000248.2:p.Arg1677Cys
NR_126491.1:n.189G>A (MHRT)
XM_017021340.1:c.5029C>T (MYH7) XP_016876829.1:p.Arg1677Cys
NM_000257.4:c.5029C>T (MYH7) MANE Select NP_000248.2:p.Arg1677Cys
Search 100 bp 5'
Search 100 bp 3'