Canonical Allele Identifier: CA612933432
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs1396311258
gnomAD v2: 14-23862089-A-G
gnomAD v3: 14-23392880-A-G
gnomAD v4: 14-23392880-A-G
MyVariant Identifiers: chr14:g.23862089A>G (hg19) chr14:g.23392880A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23392880A>G , CM000676.2:g.23392880A>G GRCh38
NC_000014.8:g.23862089A>G , CM000676.1:g.23862089A>G GRCh37
NC_000014.7:g.22931929A>G NCBI36
NG_023444.1:g.20398T>C , LRG_389:g.20398T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3251+32T>C MANE Select ENSP00000386041.3:n.3251+32T>C
ENST00000356287.3:c.3251+32T>C ENSP00000348634.3:n.3251+32T>C
ENST00000405093.7:c.3251+32T>C ENSP00000386041.3:n.3251+32T>C
NM_002471.3:c.3251+32T>C , LRG_389t1:c.3251+32T>C NP_002462.2:n.3251+32T>C
NM_002471.4:c.3251+32T>C MANE Select NP_002462.2:n.3251+32T>C
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