Canonical Allele Identifier: CA016846
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 188601
ClinVar RCV Id: RCV000168844 RCV001530040 RCV002054005
dbSNP Id: rs532401716
ExAC: 14:23900225 A / G
gnomAD v2: 14-23900225-A-G
gnomAD v3: 14-23431016-A-G
gnomAD v4: 14-23431016-A-G
MyVariant Identifiers: chr14:g.23900225A>G (hg19) chr14:g.23431016A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431016A>G , CM000676.2:g.23431016A>G GRCh38
NC_000014.8:g.23900225A>G , CM000676.1:g.23900225A>G GRCh37
NC_000014.7:g.22970065A>G NCBI36
NG_007884.1:g.9646T>C , LRG_384:g.9646T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.797-17T>C MANE Select ENSP00000347507.3:n.797-17T>C
ENST00000355349.3:c.797-17T>C ENSP00000347507.3:n.797-17T>C
NM_000257.3:c.797-17T>C NP_000248.2:n.797-17T>C
XR_245686.3:n.903-17T>C
XM_017021340.1:c.797-17T>C XP_016876829.1:n.797-17T>C
NM_000257.4:c.797-17T>C MANE Select NP_000248.2:n.797-17T>C
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