Canonical Allele Identifier: CA726977339

Gene: KCNJ12

Linked Data

• dbSNP Id: rs1369826045
• gnomAD v3: 17-21380946-C-G
• gnomAD v4: 17-21380946-C-G
• MyVariant Identifiers: chr17:g.21380946C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.21380946C>G , CM000679.2:g.21380946C>G	GRCh38
NC_000017.10:g.21284258C>G , CM000679.1:g.21284258C>G	GRCh37
NC_000017.9:g.21224851C>G	NCBI36
NG_042809.1:g.9560C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583088.6:c.-179+4033C>G MANE Select	ENSP00000463778.1:n.-179+4033C>G
ENST00000583088.5:c.-179+4033C>G	ENSP00000463778.1:n.-179+4033C>G
NM_021012.4:c.-179+4033C>G	NP_066292.2:n.-179+4033C>G
XM_005256625.3:c.-179+3620C>G	XP_005256682.1:n.-179+3620C>G
XM_005256625.5:c.-179+3620C>G	XP_005256682.1:n.-179+3620C>G
NM_021012.5:c.-179+4033C>G MANE Select	NP_066292.2:n.-179+4033C>G