Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA2573149778

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677497

ClinVar RCV Id: RCV002224239

dbSNP Id: rs2138646786

gnomAD v4: 14-23417623-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417624del , CM000676.2:g.23417624del	GRCh38
NC_000014.8:g.23886833del , CM000676.1:g.23886833del	GRCh37
NC_000014.7:g.22956673del	NCBI36
NG_007884.1:g.23038del , LRG_384:g.23038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4232del MANE Select	ENSP00000347507.3:p.Cys1411SerfsTer18
ENST00000355349.3:c.4232del	ENSP00000347507.3:p.Cys1411SerfsTer18
NM_000257.3:c.4232del	NP_000248.2:p.Cys1411SerfsTer18
XM_017021340.1:c.4232del	XP_016876829.1:p.Cys1411SerfsTer18
NM_000257.4:c.4232del MANE Select	NP_000248.2:p.Cys1411SerfsTer18