Canonical Allele Identifier: CA792943823
Gene: KCNIP4 HGNC NCBI

Linked Data

dbSNP Id: rs1358105448
gnomAD v3: 4-21475377-A-G
gnomAD v4: 4-21475377-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.21475377A>G , CM000666.2:g.21475377A>G GRCh38
NC_000004.11:g.21477000A>G , CM000666.1:g.21477000A>G GRCh37
NC_000004.10:g.21086098A>G NCBI36
NG_052969.1:g.478375T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382152.7:c.61+473194T>C MANE Select ENSP00000371587.2:n.61+473194T>C
ENST00000382148.7:c.88+221973T>C ENSP00000371583.3:n.88+221973T>C
ENST00000382152.6:c.61+473194T>C ENSP00000371587.2:n.61+473194T>C
ENST00000447367.6:c.61+473194T>C ENSP00000399080.2:n.61+473194T>C
ENST00000509207.1:c.-24+69013T>C ENSP00000423257.1:n.-24+69013T>C
ENST00000515786.2:c.173+287544T>C ENSP00000445321.1:n.173+287544T>C
NM_001035003.1:c.88+221973T>C NP_001030175.1:n.88+221973T>C
NM_001035004.1:c.-24+69013T>C NP_001030176.1:n.-24+69013T>C
NM_025221.5:c.61+473194T>C NP_079497.2:n.61+473194T>C
NM_147181.3:c.61+473194T>C NP_671710.1:n.61+473194T>C
NM_147182.3:c.-24+287544T>C NP_671711.1:n.-24+287544T>C
XM_011513882.1:c.61+473194T>C XP_011512184.1:n.61+473194T>C
XM_011513885.1:c.88+221973T>C XP_011512187.1:n.88+221973T>C
XM_011513886.1:c.61+473194T>C XP_011512188.1:n.61+473194T>C
XM_011513887.1:c.-24+69013T>C XP_011512189.1:n.-24+69013T>C
XM_011513888.1:c.-24+287544T>C XP_011512190.1:n.-24+287544T>C
XM_011513885.3:c.88+221973T>C XP_011512187.1:n.88+221973T>C
XM_011513887.2:c.-24+69013T>C XP_011512189.1:n.-24+69013T>C
NM_025221.6:c.61+473194T>C MANE Select NP_079497.2:n.61+473194T>C
NM_001035003.2:c.88+221973T>C NP_001030175.1:n.88+221973T>C
NM_001035004.2:c.-24+69013T>C NP_001030176.1:n.-24+69013T>C
NM_147181.4:c.61+473194T>C NP_671710.1:n.61+473194T>C
NM_147182.4:c.-24+287544T>C NP_671711.1:n.-24+287544T>C