Canonical Allele Identifier: CA389037371

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416045C>A , CM000676.2:g.23416045C>A GRCh38
NC_000014.8:g.23885254C>A , CM000676.1:g.23885254C>A GRCh37
NC_000014.7:g.22955094C>A NCBI36
NG_007884.1:g.24617G>T , LRG_384:g.24617G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4912G>T (MYH7) MANE Select ENSP00000347507.3:p.Glu1638Ter
ENST00000355349.3:c.4912G>T (MYH7) ENSP00000347507.3:p.Glu1638Ter
NM_000257.3:c.4912G>T (MYH7) NP_000248.2:p.Glu1638Ter
NR_126491.1:n.306C>A (MHRT)
XM_017021340.1:c.4912G>T (MYH7) XP_016876829.1:p.Glu1638Ter
NM_000257.4:c.4912G>T (MYH7) MANE Select NP_000248.2:p.Glu1638Ter