Canonical Allele Identifier: CA7114676
Community Standard Title: NM_002471.4(MYH6):c.4651-4C>A
Gene: MYH6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23386627G>T , CM000676.2:g.23386627G>T GRCh38
NC_000014.8:g.23855836G>T , CM000676.1:g.23855836G>T GRCh37
NC_000014.7:g.22925676G>T NCBI36
NG_023444.1:g.26651C>A , LRG_389:g.26651C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.4651-4C>A MANE Select NP_002462.2:n.4651-4C>A
ENST00000405093.9:c.4651-4C>A MANE Select ENSP00000386041.3:n.4651-4C>A
NM_002471.3:c.4651-4C>A , LRG_389t1:c.4651-4C>A NP_002462.2:n.4651-4C>A
ENST00000356287.3:c.4651-4C>A ENSP00000348634.3:n.4651-4C>A
ENST00000405093.7:c.4651-4C>A ENSP00000386041.3:n.4651-4C>A
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