Canonical Allele Identifier: CA792943833
Gene: KCNIP4 HGNC NCBI

Linked Data

dbSNP Id: rs1278105450
gnomAD v3: 4-21475393-T-C
gnomAD v4: 4-21475393-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.21475393T>C , CM000666.2:g.21475393T>C GRCh38
NC_000004.11:g.21477016T>C , CM000666.1:g.21477016T>C GRCh37
NC_000004.10:g.21086114T>C NCBI36
NG_052969.1:g.478359A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382152.7:c.61+473178A>G MANE Select ENSP00000371587.2:n.61+473178A>G
ENST00000382148.7:c.88+221957A>G ENSP00000371583.3:n.88+221957A>G
ENST00000382152.6:c.61+473178A>G ENSP00000371587.2:n.61+473178A>G
ENST00000447367.6:c.61+473178A>G ENSP00000399080.2:n.61+473178A>G
ENST00000509207.1:c.-24+68997A>G ENSP00000423257.1:n.-24+68997A>G
ENST00000515786.2:c.173+287528A>G ENSP00000445321.1:n.173+287528A>G
NM_001035003.1:c.88+221957A>G NP_001030175.1:n.88+221957A>G
NM_001035004.1:c.-24+68997A>G NP_001030176.1:n.-24+68997A>G
NM_025221.5:c.61+473178A>G NP_079497.2:n.61+473178A>G
NM_147181.3:c.61+473178A>G NP_671710.1:n.61+473178A>G
NM_147182.3:c.-24+287528A>G NP_671711.1:n.-24+287528A>G
XM_011513882.1:c.61+473178A>G XP_011512184.1:n.61+473178A>G
XM_011513885.1:c.88+221957A>G XP_011512187.1:n.88+221957A>G
XM_011513886.1:c.61+473178A>G XP_011512188.1:n.61+473178A>G
XM_011513887.1:c.-24+68997A>G XP_011512189.1:n.-24+68997A>G
XM_011513888.1:c.-24+287528A>G XP_011512190.1:n.-24+287528A>G
XM_011513885.3:c.88+221957A>G XP_011512187.1:n.88+221957A>G
XM_011513887.2:c.-24+68997A>G XP_011512189.1:n.-24+68997A>G
NM_025221.6:c.61+473178A>G MANE Select NP_079497.2:n.61+473178A>G
NM_001035003.2:c.88+221957A>G NP_001030175.1:n.88+221957A>G
NM_001035004.2:c.-24+68997A>G NP_001030176.1:n.-24+68997A>G
NM_147181.4:c.61+473178A>G NP_671710.1:n.61+473178A>G
NM_147182.4:c.-24+287528A>G NP_671711.1:n.-24+287528A>G