Canonical Allele Identifier: CA485765128
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs375226438
gnomAD v4: 14-23393732-C-T
COSMIC: COSM432894
MyVariant Identifiers: chr14:g.23862941C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393732C>T , CM000676.2:g.23393732C>T GRCh38
NC_000014.8:g.23862941C>T , CM000676.1:g.23862941C>T GRCh37
NC_000014.7:g.22932781C>T NCBI36
NG_023444.1:g.19546G>A , LRG_389:g.19546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2862G>A MANE Select ENSP00000386041.3:p.Lys954=
ENST00000356287.3:c.2862G>A ENSP00000348634.3:p.Lys954=
ENST00000405093.7:c.2862G>A ENSP00000386041.3:p.Lys954=
NM_002471.3:c.2862G>A , LRG_389t1:c.2862G>A NP_002462.2:p.Lys954=
NM_002471.4:c.2862G>A MANE Select NP_002462.2:p.Lys954=
Search 100 bp 5'
Search 100 bp 3'