Canonical Allele Identifier: CA044022
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 228913
ClinVar RCV Id: RCV000220338 RCV000795542 RCV001187402 RCV001256697 RCV001555883
dbSNP Id: rs757090529
ExAC: 14:23885334 G / A
gnomAD v2: 14-23885334-G-A
gnomAD v3: 14-23416125-G-A
gnomAD v4: 14-23416125-G-A
COSMIC: COSM954745
MyVariant Identifiers: chr14:g.23885334G>A (hg19) chr14:g.23416125G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416125G>A , CM000676.2:g.23416125G>A GRCh38
NC_000014.8:g.23885334G>A , CM000676.1:g.23885334G>A GRCh37
NC_000014.7:g.22955174G>A NCBI36
NG_007884.1:g.24537C>T , LRG_384:g.24537C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4832C>T (MYH7) MANE Select ENSP00000347507.3:p.Ala1611Val
ENST00000355349.3:c.4832C>T (MYH7) ENSP00000347507.3:p.Ala1611Val
NM_000257.3:c.4832C>T (MYH7) NP_000248.2:p.Ala1611Val
NR_126491.1:n.386G>A (MHRT)
XM_017021340.1:c.4832C>T (MYH7) XP_016876829.1:p.Ala1611Val
NM_000257.4:c.4832C>T (MYH7) MANE Select NP_000248.2:p.Ala1611Val
Search 100 bp 5'
Search 100 bp 3'