Allele Registry

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Canonical Allele Identifier: CA048672

Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs774497849

ExAC: 14:23900918 C / G

gnomAD v2: 14-23900918-C-G

gnomAD v4: 14-23431709-C-G

MyVariant Identifiers: chr14:g.23900918C>G (hg19) chr14:g.23431709C>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23431709C>G , CM000676.2:g.23431709C>G	GRCh38
NC_000014.8:g.23900918C>G , CM000676.1:g.23900918C>G	GRCh37
NC_000014.7:g.22970758C>G	NCBI36
NG_007884.1:g.8953G>C , LRG_384:g.8953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.640-32G>C MANE Select	ENSP00000347507.3:n.640-32G>C
ENST00000355349.3:c.640-32G>C	ENSP00000347507.3:n.640-32G>C
NM_000257.3:c.640-32G>C	NP_000248.2:n.640-32G>C
XR_245686.3:n.746-32G>C
XM_017021340.1:c.640-32G>C	XP_016876829.1:n.640-32G>C
NM_000257.4:c.640-32G>C MANE Select	NP_000248.2:n.640-32G>C

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