Canonical Allele Identifier: CA485765126
Gene: MYH6 HGNC NCBI

Linked Data

gnomAD v4: 14-23393507-T-C
MyVariant Identifiers: chr14:g.23862716T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393507T>C , CM000676.2:g.23393507T>C GRCh38
NC_000014.8:g.23862716T>C , CM000676.1:g.23862716T>C GRCh37
NC_000014.7:g.22932556T>C NCBI36
NG_023444.1:g.19771A>G , LRG_389:g.19771A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2940A>G MANE Select ENSP00000386041.3:p.Leu980=
ENST00000356287.3:c.2940A>G ENSP00000348634.3:p.Leu980=
ENST00000405093.7:c.2940A>G ENSP00000386041.3:p.Leu980=
NM_002471.3:c.2940A>G , LRG_389t1:c.2940A>G NP_002462.2:p.Leu980=
NM_002471.4:c.2940A>G MANE Select NP_002462.2:p.Leu980=
Search 100 bp 5'
Search 100 bp 3'