Canonical Allele Identifier: CA7114836
Community Standard Title: NM_002471.4(MYH6):c.4265G>A (p.Arg1422Gln)
Gene: MYH6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23388249C>T , CM000676.2:g.23388249C>T GRCh38
NC_000014.8:g.23857458C>T , CM000676.1:g.23857458C>T GRCh37
NC_000014.7:g.22927298C>T NCBI36
NG_023444.1:g.25029G>A , LRG_389:g.25029G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.4265G>A MANE Select NP_002462.2:p.Arg1422Gln
ENST00000405093.9:c.4265G>A MANE Select ENSP00000386041.3:p.Arg1422Gln
NM_002471.3:c.4265G>A , LRG_389t1:c.4265G>A NP_002462.2:p.Arg1422Gln
ENST00000356287.3:c.4265G>A ENSP00000348634.3:p.Arg1422Gln
ENST00000405093.7:c.4265G>A ENSP00000386041.3:p.Arg1422Gln
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