Canonical Allele Identifier: CA704270745
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs1417475620
gnomAD v3: 14-23393601-G-A
gnomAD v4: 14-23393601-G-A
MyVariant Identifiers: chr14:g.23862810G>A (hg19) chr14:g.23393601G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393601G>A , CM000676.2:g.23393601G>A GRCh38
NC_000014.8:g.23862810G>A , CM000676.1:g.23862810G>A GRCh37
NC_000014.7:g.22932650G>A NCBI36
NG_023444.1:g.19677C>T , LRG_389:g.19677C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2928+65C>T MANE Select ENSP00000386041.3:n.2928+65C>T
ENST00000356287.3:c.2928+65C>T ENSP00000348634.3:n.2928+65C>T
ENST00000405093.7:c.2928+65C>T ENSP00000386041.3:n.2928+65C>T
NM_002471.3:c.2928+65C>T , LRG_389t1:c.2928+65C>T NP_002462.2:n.2928+65C>T
NM_002471.4:c.2928+65C>T MANE Select NP_002462.2:n.2928+65C>T
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