Canonical Allele Identifier: CA2123452633

Gene: MYH7

Linked Data

• dbSNP Id: rs1892555827
• gnomAD v4: 14-23423405-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423406dup , CM000676.2:g.23423406dup	GRCh38
NC_000014.8:g.23892615dup , CM000676.1:g.23892615dup	GRCh37
NC_000014.7:g.22962455dup	NCBI36
NG_007884.1:g.17256dup , LRG_384:g.17256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+141dup MANE Select	ENSP00000347507.3:n.3099+141dup
ENST00000355349.3:c.3099+141dup	ENSP00000347507.3:n.3099+141dup
NM_000257.3:c.3099+141dup	NP_000248.2:n.3099+141dup
XR_245686.3:n.3205+141dup
XM_017021340.1:c.3099+141dup	XP_016876829.1:n.3099+141dup
NM_000257.4:c.3099+141dup MANE Select	NP_000248.2:n.3099+141dup