Canonical Allele Identifier: CA134415

Gene: MYH6

Linked Data

• ClinVar Variation Id: 44516
• ClinVar RCV Id: RCV000037510 ; RCV000477185 ; RCV000621711 ; RCV001533537 ; RCV002490510
• dbSNP Id: rs142539180
• ExAC: 14:23856852 C / T
• gnomAD v2: 14-23856852-C-T
• gnomAD v3: 14-23387643-C-T
• gnomAD v4: 14-23387643-C-T
• MyVariant Identifiers: chr14:g.23856852C>T (hg19) ; chr14:g.23387643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23387643C>T , CM000676.2:g.23387643C>T	GRCh38
NC_000014.8:g.23856852C>T , CM000676.1:g.23856852C>T	GRCh37
NC_000014.7:g.22926692C>T	NCBI36
NG_023444.1:g.25635G>A , LRG_389:g.25635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.4536G>A MANE Select	ENSP00000386041.3:p.Ser1512=
ENST00000356287.3:c.4536G>A	ENSP00000348634.3:p.Ser1512=
ENST00000405093.7:c.4536G>A	ENSP00000386041.3:p.Ser1512=
NM_002471.3:c.4536G>A , LRG_389t1:c.4536G>A	NP_002462.2:p.Ser1512=
NM_002471.4:c.4536G>A MANE Select	NP_002462.2:p.Ser1512=