Canonical Allele Identifier: CA389040093

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417531A>C , CM000676.2:g.23417531A>C GRCh38
NC_000014.8:g.23886740A>C , CM000676.1:g.23886740A>C GRCh37
NC_000014.7:g.22956580A>C NCBI36
NG_007884.1:g.23131T>G , LRG_384:g.23131T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4325T>G (MYH7) MANE Select ENSP00000347507.3:p.Leu1442Arg
ENST00000355349.3:c.4325T>G (MYH7) ENSP00000347507.3:p.Leu1442Arg
NM_000257.3:c.4325T>G (MYH7) NP_000248.2:p.Leu1442Arg
NR_126491.1:n.814-2A>C (MHRT)
XM_017021340.1:c.4325T>G (MYH7) XP_016876829.1:p.Leu1442Arg
NM_000257.4:c.4325T>G (MYH7) MANE Select NP_000248.2:p.Leu1442Arg