Canonical Allele Identifier: CA389040273

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417583T>G , CM000676.2:g.23417583T>G GRCh38
NC_000014.8:g.23886792T>G , CM000676.1:g.23886792T>G GRCh37
NC_000014.7:g.22956632T>G NCBI36
NG_007884.1:g.23079A>C , LRG_384:g.23079A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4273A>C (MYH7) MANE Select ENSP00000347507.3:p.Ile1425Leu
ENST00000355349.3:c.4273A>C (MYH7) ENSP00000347507.3:p.Ile1425Leu
NM_000257.3:c.4273A>C (MYH7) NP_000248.2:p.Ile1425Leu
NR_126491.1:n.864T>G (MHRT)
XM_017021340.1:c.4273A>C (MYH7) XP_016876829.1:p.Ile1425Leu
NM_000257.4:c.4273A>C (MYH7) MANE Select NP_000248.2:p.Ile1425Leu