Canonical Allele Identifier: CA7115480
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1375285
ClinVar RCV Id: RCV001879598 RCV002449518
dbSNP Id: rs763477425
ExAC: 14:23865524 G / A
gnomAD v2: 14-23865524-G-A
gnomAD v3: 14-23396315-G-A
gnomAD v4: 14-23396315-G-A
COSMIC: COSM954723
MyVariant Identifiers: chr14:g.23865524G>A (hg19) chr14:g.23396315G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23396315G>A , CM000676.2:g.23396315G>A GRCh38
NC_000014.8:g.23865524G>A , CM000676.1:g.23865524G>A GRCh37
NC_000014.7:g.22935364G>A NCBI36
NG_023444.1:g.16963C>T , LRG_389:g.16963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2398C>T MANE Select ENSP00000386041.3:p.Arg800Cys
ENST00000356287.3:c.2398C>T ENSP00000348634.3:p.Arg800Cys
ENST00000405093.7:c.2398C>T ENSP00000386041.3:p.Arg800Cys
NM_002471.3:c.2398C>T , LRG_389t1:c.2398C>T NP_002462.2:p.Arg800Cys
NM_002471.4:c.2398C>T MANE Select NP_002462.2:p.Arg800Cys
Search 100 bp 5'
Search 100 bp 3'