Canonical Allele Identifier: CA792943840
Gene: KCNIP4 HGNC NCBI

Linked Data

dbSNP Id: rs1441776216
gnomAD v3: 4-21475399-C-A
gnomAD v4: 4-21475399-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.21475399C>A , CM000666.2:g.21475399C>A GRCh38
NC_000004.11:g.21477022C>A , CM000666.1:g.21477022C>A GRCh37
NC_000004.10:g.21086120C>A NCBI36
NG_052969.1:g.478353G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382152.7:c.61+473172G>T MANE Select ENSP00000371587.2:n.61+473172G>T
ENST00000382148.7:c.88+221951G>T ENSP00000371583.3:n.88+221951G>T
ENST00000382152.6:c.61+473172G>T ENSP00000371587.2:n.61+473172G>T
ENST00000447367.6:c.61+473172G>T ENSP00000399080.2:n.61+473172G>T
ENST00000509207.1:c.-24+68991G>T ENSP00000423257.1:n.-24+68991G>T
ENST00000515786.2:c.173+287522G>T ENSP00000445321.1:n.173+287522G>T
NM_001035003.1:c.88+221951G>T NP_001030175.1:n.88+221951G>T
NM_001035004.1:c.-24+68991G>T NP_001030176.1:n.-24+68991G>T
NM_025221.5:c.61+473172G>T NP_079497.2:n.61+473172G>T
NM_147181.3:c.61+473172G>T NP_671710.1:n.61+473172G>T
NM_147182.3:c.-24+287522G>T NP_671711.1:n.-24+287522G>T
XM_011513882.1:c.61+473172G>T XP_011512184.1:n.61+473172G>T
XM_011513885.1:c.88+221951G>T XP_011512187.1:n.88+221951G>T
XM_011513886.1:c.61+473172G>T XP_011512188.1:n.61+473172G>T
XM_011513887.1:c.-24+68991G>T XP_011512189.1:n.-24+68991G>T
XM_011513888.1:c.-24+287522G>T XP_011512190.1:n.-24+287522G>T
XM_011513885.3:c.88+221951G>T XP_011512187.1:n.88+221951G>T
XM_011513887.2:c.-24+68991G>T XP_011512189.1:n.-24+68991G>T
NM_025221.6:c.61+473172G>T MANE Select NP_079497.2:n.61+473172G>T
NM_001035003.2:c.88+221951G>T NP_001030175.1:n.88+221951G>T
NM_001035004.2:c.-24+68991G>T NP_001030176.1:n.-24+68991G>T
NM_147181.4:c.61+473172G>T NP_671710.1:n.61+473172G>T
NM_147182.4:c.-24+287522G>T NP_671711.1:n.-24+287522G>T