Canonical Allele Identifier: CA379769556
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387114G>C , CM000673.2:g.17387114G>C GRCh38
NC_000011.9:g.17408661G>C , CM000673.1:g.17408661G>C GRCh37
NC_000011.8:g.17365237G>C NCBI36
NG_012446.1:g.6546C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.717C>G ENSP00000508090.1:p.Tyr239Ter
ENST00000682764.1:c.717C>G ENSP00000506780.1:p.Tyr239Ter
ENST00000339994.5:c.978C>G MANE Select ENSP00000345708.4:p.Tyr326Ter
ENST00000339994.4:c.978C>G ENSP00000345708.4:p.Tyr326Ter
ENST00000528731.1:c.717C>G ENSP00000434755.1:p.Tyr239Ter
NM_000525.3:c.978C>G NP_000516.3:p.Tyr326Ter
NM_001166290.1:c.717C>G NP_001159762.1:p.Tyr239Ter
XM_006718226.2:c.717C>G XP_006718289.1:p.Tyr239Ter
XR_930867.1:n.1136C>G
XM_006718226.3:c.717C>G XP_006718289.1:p.Tyr239Ter
XM_017017680.1:c.717C>G XP_016873169.1:p.Tyr239Ter
NM_001166290.2:c.717C>G NP_001159762.1:p.Tyr239Ter
NM_001377296.1:c.717C>G NP_001364225.1:p.Tyr239Ter
NM_001377297.1:c.717C>G NP_001364226.1:p.Tyr239Ter
NM_000525.4:c.978C>G MANE Select NP_000516.3:p.Tyr326Ter