Canonical Allele Identifier: CA2575486489
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424716G>A , CM000676.2:g.23424716G>A GRCh38
NC_000014.8:g.23893925G>A , CM000676.1:g.23893925G>A GRCh37
NC_000014.7:g.22963765G>A NCBI36
NG_007884.1:g.15946C>T , LRG_384:g.15946C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2679+53C>T MANE Select ENSP00000347507.3:n.2679+53C>T
ENST00000355349.3:c.2679+53C>T ENSP00000347507.3:n.2679+53C>T
NM_000257.3:c.2679+53C>T NP_000248.2:n.2679+53C>T
XR_245686.3:n.2785+53C>T
XM_017021340.1:c.2679+53C>T XP_016876829.1:n.2679+53C>T
NM_000257.4:c.2679+53C>T MANE Select NP_000248.2:n.2679+53C>T
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