Canonical Allele Identifier: CA289007497
Gene: KCNJ12 HGNC NCBI

Linked Data

dbSNP Id: rs549201530
gnomAD v2: 17-21284298-C-G
gnomAD v3: 17-21380986-C-G
gnomAD v4: 17-21380986-C-G
MyVariant Identifiers: chr17:g.21284298C>G (hg19) chr17:g.21380986C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.21380986C>G , CM000679.2:g.21380986C>G GRCh38
NC_000017.10:g.21284298C>G , CM000679.1:g.21284298C>G GRCh37
NC_000017.9:g.21224891C>G NCBI36
NG_042809.1:g.9600C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000583088.6:c.-179+4073C>G MANE Select ENSP00000463778.1:n.-179+4073C>G
ENST00000583088.5:c.-179+4073C>G ENSP00000463778.1:n.-179+4073C>G
NM_021012.4:c.-179+4073C>G NP_066292.2:n.-179+4073C>G
XM_005256625.3:c.-179+3660C>G XP_005256682.1:n.-179+3660C>G
XM_005256625.5:c.-179+3660C>G XP_005256682.1:n.-179+3660C>G
NM_021012.5:c.-179+4073C>G MANE Select NP_066292.2:n.-179+4073C>G
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