Canonical Allele Identifier: CA2590019356
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs1370806397
gnomAD v3: 14-23392869-C-G
gnomAD v4: 14-23392869-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23392869C>G , CM000676.2:g.23392869C>G GRCh38
NC_000014.8:g.23862078C>G , CM000676.1:g.23862078C>G GRCh37
NC_000014.7:g.22931918C>G NCBI36
NG_023444.1:g.20409G>C , LRG_389:g.20409G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3251+43G>C MANE Select ENSP00000386041.3:n.3251+43G>C
ENST00000356287.3:c.3251+43G>C ENSP00000348634.3:n.3251+43G>C
ENST00000405093.7:c.3251+43G>C ENSP00000386041.3:n.3251+43G>C
NM_002471.3:c.3251+43G>C , LRG_389t1:c.3251+43G>C NP_002462.2:n.3251+43G>C
NM_002471.4:c.3251+43G>C MANE Select NP_002462.2:n.3251+43G>C
Search 100 bp 5'
Search 100 bp 3'