Canonical Allele Identifier: CA181321
Community Standard Title: NM_002471.4(MYH6):c.4360-7C>G
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23387930G>C , CM000676.2:g.23387930G>C GRCh38
NC_000014.8:g.23857139G>C , CM000676.1:g.23857139G>C GRCh37
NC_000014.7:g.22926979G>C NCBI36
NG_023444.1:g.25348C>G , LRG_389:g.25348C>G

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.4360-7C>G MANE Select NP_002462.2:n.4360-7C>G
ENST00000405093.9:c.4360-7C>G MANE Select ENSP00000386041.3:n.4360-7C>G
NM_002471.3:c.4360-7C>G , LRG_389t1:c.4360-7C>G NP_002462.2:n.4360-7C>G
ENST00000356287.3:c.4360-7C>G ENSP00000348634.3:n.4360-7C>G
ENST00000405093.7:c.4360-7C>G ENSP00000386041.3:n.4360-7C>G