Canonical Allele Identifier: CA7115198
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 397510
ClinVar RCV Id: RCV000449563
dbSNP Id: rs773660161
ExAC: 14:23859601 T / G
gnomAD v2: 14-23859601-T-G
gnomAD v4: 14-23390392-T-G
MyVariant Identifiers: chr14:g.23859601T>G (hg19) chr14:g.23390392T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23390392T>G , CM000676.2:g.23390392T>G GRCh38
NC_000014.8:g.23859601T>G , CM000676.1:g.23859601T>G GRCh37
NC_000014.7:g.22929441T>G NCBI36
NG_023444.1:g.22886A>C , LRG_389:g.22886A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3397A>C MANE Select ENSP00000386041.3:p.Lys1133Gln
ENST00000356287.3:c.3397A>C ENSP00000348634.3:p.Lys1133Gln
ENST00000405093.7:c.3397A>C ENSP00000386041.3:p.Lys1133Gln
NM_002471.3:c.3397A>C , LRG_389t1:c.3397A>C NP_002462.2:p.Lys1133Gln
NM_002471.4:c.3397A>C MANE Select NP_002462.2:p.Lys1133Gln
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