Canonical Allele Identifier: CA257811807
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1363094
ClinVar RCV Id: RCV001934745 RCV003375382
dbSNP Id: rs995126992
gnomAD v2: 14-23886499-T-C
gnomAD v4: 14-23417290-T-C
MyVariant Identifiers: chr14:g.23886499T>C (hg19) chr14:g.23417290T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417290T>C , CM000676.2:g.23417290T>C GRCh38
NC_000014.8:g.23886499T>C , CM000676.1:g.23886499T>C GRCh37
NC_000014.7:g.22956339T>C NCBI36
NG_007884.1:g.23372A>G , LRG_384:g.23372A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4382A>G (MYH7) MANE Select ENSP00000347507.3:p.Glu1461Gly
ENST00000355349.3:c.4382A>G (MYH7) ENSP00000347507.3:p.Glu1461Gly
NM_000257.3:c.4382A>G (MYH7) NP_000248.2:p.Glu1461Gly
NR_126491.1:n.730T>C (MHRT)
XM_017021340.1:c.4382A>G (MYH7) XP_016876829.1:p.Glu1461Gly
NM_000257.4:c.4382A>G (MYH7) MANE Select NP_000248.2:p.Glu1461Gly
Search 100 bp 5'
Search 100 bp 3'