Canonical Allele Identifier: CA011391
Community Standard Title: NM_000257.4(MYH7):c.1888+1G>A
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427584C>T , CM000676.2:g.23427584C>T GRCh38
NC_000014.8:g.23896793C>T , CM000676.1:g.23896793C>T GRCh37
NC_000014.7:g.22966633C>T NCBI36
NG_007884.1:g.13078G>A , LRG_384:g.13078G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000257.4:c.1888+1G>A MANE Select NP_000248.2:n.1888+1G>A
ENST00000355349.4:c.1888+1G>A MANE Select ENSP00000347507.3:n.1888+1G>A
NM_000257.3:c.1888+1G>A NP_000248.2:n.1888+1G>A
ENST00000355349.3:c.1888+1G>A ENSP00000347507.3:n.1888+1G>A
XM_017021340.1:c.1888+1G>A XP_016876829.1:n.1888+1G>A
XR_245686.3:n.1994+1G>A
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