Canonical Allele Identifier: CA037050

Gene: MYH7

Linked Data

• ClinVar Variation Id: 1171914
• ClinVar RCV Id: RCV001525370 ; RCV003748343
• dbSNP Id: rs779144252
• ExAC: 14:23889447 G / GA
• gnomAD v3: 14-23420238-G-GA
• gnomAD v4: 14-23420238-G-GA
• MyVariant Identifiers: chr14:g.23889447_23889448insA (hg19) ; chr14:g.23420238_23420239insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23420238_23420239insA , CM000676.2:g.23420238_23420239insA	GRCh38
NC_000014.8:g.23889447_23889448insA , CM000676.1:g.23889447_23889448insA	GRCh37
NC_000014.7:g.22959287_22959288insA	NCBI36
NG_007884.1:g.20423_20424insT , LRG_384:g.20423_20424insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3337-5_3337-4insT MANE Select	ENSP00000347507.3:n.3337-5_3337-4insT
ENST00000355349.3:c.3337-5_3337-4insT	ENSP00000347507.3:n.3337-5_3337-4insT
NM_000257.3:c.3337-5_3337-4insT	NP_000248.2:n.3337-5_3337-4insT
XR_245686.3:n.3445-5_3445-4insT
XM_017021340.1:c.3337-5_3337-4insT	XP_016876829.1:n.3337-5_3337-4insT
NM_000257.4:c.3337-5_3337-4insT MANE Select	NP_000248.2:n.3337-5_3337-4insT