Canonical Allele Identifier: CA389045432
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2578711
ClinVar RCV Id: RCV003326887
gnomAD v4: 14-23422294-A-G
MyVariant Identifiers: chr14:g.23891503A>G (hg19) chr14:g.23422294A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422294A>G , CM000676.2:g.23422294A>G GRCh38
NC_000014.8:g.23891503A>G , CM000676.1:g.23891503A>G GRCh37
NC_000014.7:g.22961343A>G NCBI36
NG_007884.1:g.18368T>C , LRG_384:g.18368T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3131T>C MANE Select ENSP00000347507.3:p.Val1044Ala
ENST00000355349.3:c.3131T>C ENSP00000347507.3:p.Val1044Ala
NM_000257.3:c.3131T>C NP_000248.2:p.Val1044Ala
XR_245686.3:n.3237T>C
XM_017021340.1:c.3131T>C XP_016876829.1:p.Val1044Ala
NM_000257.4:c.3131T>C MANE Select NP_000248.2:p.Val1044Ala
Search 100 bp 5'
Search 100 bp 3'