Canonical Allele Identifier: CA031829

Gene: MYH7

Linked Data

• ClinVar Variation Id: 1171539
• ClinVar RCV Id: RCV001524736 ; RCV002070311
• dbSNP Id: rs747848184
• ExAC: 14:23894958 C / T
• gnomAD v2: 14-23894958-C-T
• gnomAD v3: 14-23425749-C-T
• gnomAD v4: 14-23425749-C-T
• MyVariant Identifiers: chr14:g.23894958C>T (hg19) ; chr14:g.23425749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23425749C>T , CM000676.2:g.23425749C>T	GRCh38
NC_000014.8:g.23894958C>T , CM000676.1:g.23894958C>T	GRCh37
NC_000014.7:g.22964798C>T	NCBI36
NG_007884.1:g.14913G>A , LRG_384:g.14913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2232G>A MANE Select	ENSP00000347507.3:p.Lys744=
ENST00000355349.3:c.2232G>A	ENSP00000347507.3:p.Lys744=
NM_000257.3:c.2232G>A	NP_000248.2:p.Lys744=
XR_245686.3:n.2338G>A
XM_017021340.1:c.2232G>A	XP_016876829.1:p.Lys744=
NM_000257.4:c.2232G>A MANE Select	NP_000248.2:p.Lys744=