Canonical Allele Identifier: CA389037870
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1802219
ClinVar RCV Id: RCV002465032 RCV003533275
gnomAD v4: 14-23416276-C-A
MyVariant Identifiers: chr14:g.23885485C>A (hg19) chr14:g.23416276C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416276C>A , CM000676.2:g.23416276C>A GRCh38
NC_000014.8:g.23885485C>A , CM000676.1:g.23885485C>A GRCh37
NC_000014.7:g.22955325C>A NCBI36
NG_007884.1:g.24386G>T , LRG_384:g.24386G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4681G>T (MYH7) MANE Select ENSP00000347507.3:p.Ala1561Ser
ENST00000355349.3:c.4681G>T (MYH7) ENSP00000347507.3:p.Ala1561Ser
NM_000257.3:c.4681G>T (MYH7) NP_000248.2:p.Ala1561Ser
NR_126491.1:n.537C>A (MHRT)
XM_017021340.1:c.4681G>T (MYH7) XP_016876829.1:p.Ala1561Ser
NM_000257.4:c.4681G>T (MYH7) MANE Select NP_000248.2:p.Ala1561Ser
Search 100 bp 5'
Search 100 bp 3'