Canonical Allele Identifier: CA2251974130
Gene: KCNJ12 HGNC NCBI

Linked Data

dbSNP Id: rs1904845636
gnomAD v3: 17-21380986-CT-C
gnomAD v4: 17-21380986-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.21380988del , CM000679.2:g.21380988del GRCh38
NC_000017.10:g.21284300del , CM000679.1:g.21284300del GRCh37
NC_000017.9:g.21224893del NCBI36
NG_042809.1:g.9602del

Transcript Alleles

HGVS Amino-acid change
ENST00000583088.6:c.-179+4075del MANE Select ENSP00000463778.1:n.-179+4075del
ENST00000583088.5:c.-179+4075del ENSP00000463778.1:n.-179+4075del
NM_021012.4:c.-179+4075del NP_066292.2:n.-179+4075del
XM_005256625.3:c.-179+3662del XP_005256682.1:n.-179+3662del
XM_005256625.5:c.-179+3662del XP_005256682.1:n.-179+3662del
NM_021012.5:c.-179+4075del MANE Select NP_066292.2:n.-179+4075del
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