Canonical Allele Identifier: CA379776454

Gene: KCNJ11

Linked Data

• MyVariant Identifiers: chr11:g.17409497T>G (hg19) ; chr11:g.17387950T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387950T>G , CM000673.2:g.17387950T>G	GRCh38
NC_000011.9:g.17409497T>G , CM000673.1:g.17409497T>G	GRCh37
NC_000011.8:g.17366073T>G	NCBI36
NG_012446.1:g.5710A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.-87A>C	ENSP00000436479.2:n.-87A>C
ENST00000682350.1:c.-16-104A>C	ENSP00000508090.1:n.-16-104A>C
ENST00000682764.1:c.-16-104A>C	ENSP00000506780.1:n.-16-104A>C
ENST00000339994.5:c.142A>C MANE Select	ENSP00000345708.4:p.Asn48His
ENST00000339994.4:c.142A>C	ENSP00000345708.4:p.Asn48His
ENST00000526912.1:c.-17+68A>C	ENSP00000432729.1:n.-17+68A>C
ENST00000528731.1:c.-16-104A>C	ENSP00000434755.1:n.-16-104A>C
ENST00000528992.1:c.159A>C
NM_000525.3:c.142A>C	NP_000516.3:p.Asn48His
NM_001166290.1:c.-16-104A>C	NP_001159762.1:n.-16-104A>C
XM_006718226.2:c.-16-104A>C	XP_006718289.1:n.-16-104A>C
XR_930867.1:n.300A>C
XM_006718226.3:c.-16-104A>C	XP_006718289.1:n.-16-104A>C
XM_017017680.1:c.-16-104A>C	XP_016873169.1:n.-16-104A>C
NM_001166290.2:c.-16-104A>C	NP_001159762.1:n.-16-104A>C
NM_001377296.1:c.-17+68A>C	NP_001364225.1:n.-17+68A>C
NM_001377297.1:c.-16-104A>C	NP_001364226.1:n.-16-104A>C
NM_000525.4:c.142A>C MANE Select	NP_000516.3:p.Asn48His