Canonical Allele Identifier: CA289007487
Gene: KCNJ12 HGNC NCBI

Linked Data

dbSNP Id: rs895195390
gnomAD v2: 17-21284230-C-A
gnomAD v3: 17-21380918-C-A
gnomAD v4: 17-21380918-C-A
MyVariant Identifiers: chr17:g.21284230C>A (hg19) chr17:g.21380918C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.21380918C>A , CM000679.2:g.21380918C>A GRCh38
NC_000017.10:g.21284230C>A , CM000679.1:g.21284230C>A GRCh37
NC_000017.9:g.21224823C>A NCBI36
NG_042809.1:g.9532C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000583088.6:c.-179+4005C>A MANE Select ENSP00000463778.1:n.-179+4005C>A
ENST00000583088.5:c.-179+4005C>A ENSP00000463778.1:n.-179+4005C>A
NM_021012.4:c.-179+4005C>A NP_066292.2:n.-179+4005C>A
XM_005256625.3:c.-179+3592C>A XP_005256682.1:n.-179+3592C>A
XM_005256625.5:c.-179+3592C>A XP_005256682.1:n.-179+3592C>A
NM_021012.5:c.-179+4005C>A MANE Select NP_066292.2:n.-179+4005C>A
Search 100 bp 5'
Search 100 bp 3'