Canonical Allele Identifier: CA2624238056
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429179T>G , CM000676.2:g.23429179T>G GRCh38
NC_000014.8:g.23898388T>G , CM000676.1:g.23898388T>G GRCh37
NC_000014.7:g.22968228T>G NCBI36
NG_007884.1:g.11483A>C , LRG_384:g.11483A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1257+50A>C MANE Select ENSP00000347507.3:n.1257+50A>C
ENST00000355349.3:c.1257+50A>C ENSP00000347507.3:n.1257+50A>C
NM_000257.3:c.1257+50A>C NP_000248.2:n.1257+50A>C
XR_245686.3:n.1363+50A>C
XM_017021340.1:c.1257+50A>C XP_016876829.1:n.1257+50A>C
NM_000257.4:c.1257+50A>C MANE Select NP_000248.2:n.1257+50A>C