Canonical Allele Identifier: CA7115266
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs370201664
ExAC: 14:23862084 C / T
gnomAD v2: 14-23862084-C-T
gnomAD v3: 14-23392875-C-T
gnomAD v4: 14-23392875-C-T
MyVariant Identifiers: chr14:g.23862084C>T (hg19) chr14:g.23392875C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23392875C>T , CM000676.2:g.23392875C>T GRCh38
NC_000014.8:g.23862084C>T , CM000676.1:g.23862084C>T GRCh37
NC_000014.7:g.22931924C>T NCBI36
NG_023444.1:g.20403G>A , LRG_389:g.20403G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3251+37G>A MANE Select ENSP00000386041.3:n.3251+37G>A
ENST00000356287.3:c.3251+37G>A ENSP00000348634.3:n.3251+37G>A
ENST00000405093.7:c.3251+37G>A ENSP00000386041.3:n.3251+37G>A
NM_002471.3:c.3251+37G>A , LRG_389t1:c.3251+37G>A NP_002462.2:n.3251+37G>A
NM_002471.4:c.3251+37G>A MANE Select NP_002462.2:n.3251+37G>A
Search 100 bp 5'
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