Canonical Allele Identifier: CA389040315

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417595G>C , CM000676.2:g.23417595G>C GRCh38
NC_000014.8:g.23886804G>C , CM000676.1:g.23886804G>C GRCh37
NC_000014.7:g.22956644G>C NCBI36
NG_007884.1:g.23067C>G , LRG_384:g.23067C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4261C>G (MYH7) MANE Select ENSP00000347507.3:p.Leu1421Val
ENST00000355349.3:c.4261C>G (MYH7) ENSP00000347507.3:p.Leu1421Val
NM_000257.3:c.4261C>G (MYH7) NP_000248.2:p.Leu1421Val
NR_126491.1:n.876G>C (MHRT)
XM_017021340.1:c.4261C>G (MYH7) XP_016876829.1:p.Leu1421Val
NM_000257.4:c.4261C>G (MYH7) MANE Select NP_000248.2:p.Leu1421Val