Canonical Allele Identifier: CA2624238114
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429201A>C , CM000676.2:g.23429201A>C GRCh38
NC_000014.8:g.23898410A>C , CM000676.1:g.23898410A>C GRCh37
NC_000014.7:g.22968250A>C NCBI36
NG_007884.1:g.11461T>G , LRG_384:g.11461T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1257+28T>G MANE Select ENSP00000347507.3:n.1257+28T>G
ENST00000355349.3:c.1257+28T>G ENSP00000347507.3:n.1257+28T>G
NM_000257.3:c.1257+28T>G NP_000248.2:n.1257+28T>G
XR_245686.3:n.1363+28T>G
XM_017021340.1:c.1257+28T>G XP_016876829.1:n.1257+28T>G
NM_000257.4:c.1257+28T>G MANE Select NP_000248.2:n.1257+28T>G