Canonical Allele Identifier: CA485766470

Linked Data

MyVariant Identifiers: chr14:g.23885249G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416040G>C , CM000676.2:g.23416040G>C GRCh38
NC_000014.8:g.23885249G>C , CM000676.1:g.23885249G>C GRCh37
NC_000014.7:g.22955089G>C NCBI36
NG_007884.1:g.24622C>G , LRG_384:g.24622C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4917C>G (MYH7) MANE Select ENSP00000347507.3:p.Ala1639=
ENST00000355349.3:c.4917C>G (MYH7) ENSP00000347507.3:p.Ala1639=
NM_000257.3:c.4917C>G (MYH7) NP_000248.2:p.Ala1639=
NR_126491.1:n.301G>C (MHRT)
XM_017021340.1:c.4917C>G (MYH7) XP_016876829.1:p.Ala1639=
NM_000257.4:c.4917C>G (MYH7) MANE Select NP_000248.2:p.Ala1639=