Allele Registry

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Canonical Allele Identifier: CA257817774

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 675339

ClinVar RCV Id: RCV000834693

dbSNP Id: rs17092021

gnomAD v2: 14-23891265-A-G

gnomAD v3: 14-23422056-A-G

gnomAD v4: 14-23422056-A-G

MyVariant Identifiers: chr14:g.23891265A>G (hg19) chr14:g.23422056A>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23422056A>G , CM000676.2:g.23422056A>G	GRCh38
NC_000014.8:g.23891265A>G , CM000676.1:g.23891265A>G	GRCh37
NC_000014.7:g.22961105A>G	NCBI36
NG_007884.1:g.18606T>C , LRG_384:g.18606T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3245+124T>C MANE Select	ENSP00000347507.3:n.3245+124T>C
ENST00000355349.3:c.3245+124T>C	ENSP00000347507.3:n.3245+124T>C
NM_000257.3:c.3245+124T>C	NP_000248.2:n.3245+124T>C
XR_245686.3:n.3351+124T>C
XM_017021340.1:c.3245+124T>C	XP_016876829.1:n.3245+124T>C
NM_000257.4:c.3245+124T>C MANE Select	NP_000248.2:n.3245+124T>C

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