Canonical Allele Identifier: CA612937353

Gene: MYH7

Linked Data

• dbSNP Id: rs1491515716
• gnomAD v2: 14-23892644-A-AC
• gnomAD v3: 14-23423435-A-AC
• gnomAD v4: 14-23423435-A-AC
• MyVariant Identifiers: chr14:g.23892644_23892645insC (hg19) ; chr14:g.23423435_23423436insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423435_23423436insC , CM000676.2:g.23423435_23423436insC	GRCh38
NC_000014.8:g.23892644_23892645insC , CM000676.1:g.23892644_23892645insC	GRCh37
NC_000014.7:g.22962484_22962485insC	NCBI36
NG_007884.1:g.17226_17227insG , LRG_384:g.17226_17227insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+111_3099+112insG MANE Select	ENSP00000347507.3:n.3099+111_3099+112insG
ENST00000355349.3:c.3099+111_3099+112insG	ENSP00000347507.3:n.3099+111_3099+112insG
NM_000257.3:c.3099+111_3099+112insG	NP_000248.2:n.3099+111_3099+112insG
XR_245686.3:n.3205+111_3205+112insG
XM_017021340.1:c.3099+111_3099+112insG	XP_016876829.1:n.3099+111_3099+112insG
NM_000257.4:c.3099+111_3099+112insG MANE Select	NP_000248.2:n.3099+111_3099+112insG