Canonical Allele Identifier: CA389016217

Gene: MYH6

Linked Data

• gnomAD v4: 14-23396336-G-A
• MyVariant Identifiers: chr14:g.23865545G>A (hg19) ; chr14:g.23396336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23396336G>A , CM000676.2:g.23396336G>A	GRCh38
NC_000014.8:g.23865545G>A , CM000676.1:g.23865545G>A	GRCh37
NC_000014.7:g.22935385G>A	NCBI36
NG_023444.1:g.16942C>T , LRG_389:g.16942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2377C>T MANE Select	ENSP00000386041.3:p.Gln793Ter
ENST00000356287.3:c.2377C>T	ENSP00000348634.3:p.Gln793Ter
ENST00000405093.7:c.2377C>T	ENSP00000386041.3:p.Gln793Ter
NM_002471.3:c.2377C>T , LRG_389t1:c.2377C>T	NP_002462.2:p.Gln793Ter
NM_002471.4:c.2377C>T MANE Select	NP_002462.2:p.Gln793Ter