Canonical Allele Identifier: CA389037352

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416036T>G , CM000676.2:g.23416036T>G GRCh38
NC_000014.8:g.23885245T>G , CM000676.1:g.23885245T>G GRCh37
NC_000014.7:g.22955085T>G NCBI36
NG_007884.1:g.24626A>C , LRG_384:g.24626A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4921A>C (MYH7) MANE Select ENSP00000347507.3:p.Lys1641Gln
ENST00000355349.3:c.4921A>C (MYH7) ENSP00000347507.3:p.Lys1641Gln
NM_000257.3:c.4921A>C (MYH7) NP_000248.2:p.Lys1641Gln
NR_126491.1:n.297T>G (MHRT)
XM_017021340.1:c.4921A>C (MYH7) XP_016876829.1:p.Lys1641Gln
NM_000257.4:c.4921A>C (MYH7) MANE Select NP_000248.2:p.Lys1641Gln