Canonical Allele Identifier: CA93963288
Gene: KCNIP4 HGNC NCBI

Linked Data

dbSNP Id: rs548461976
gnomAD v3: 4-21569532-A-G
gnomAD v4: 4-21569532-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.21569532A>G , CM000666.2:g.21569532A>G GRCh38
NC_000004.11:g.21571155A>G , CM000666.1:g.21571155A>G GRCh37
NC_000004.10:g.21180253A>G NCBI36
NG_052969.1:g.384220T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382152.7:c.61+379039T>C MANE Select ENSP00000371587.2:n.61+379039T>C
ENST00000382148.7:c.88+127818T>C ENSP00000371583.3:n.88+127818T>C
ENST00000382152.6:c.61+379039T>C ENSP00000371587.2:n.61+379039T>C
ENST00000447367.6:c.61+379039T>C ENSP00000399080.2:n.61+379039T>C
ENST00000515786.2:c.173+193389T>C ENSP00000445321.1:n.173+193389T>C
NM_001035003.1:c.88+127818T>C NP_001030175.1:n.88+127818T>C
NM_025221.5:c.61+379039T>C NP_079497.2:n.61+379039T>C
NM_147181.3:c.61+379039T>C NP_671710.1:n.61+379039T>C
NM_147182.3:c.-24+193389T>C NP_671711.1:n.-24+193389T>C
XM_011513882.1:c.61+379039T>C XP_011512184.1:n.61+379039T>C
XM_011513885.1:c.88+127818T>C XP_011512187.1:n.88+127818T>C
XM_011513886.1:c.61+379039T>C XP_011512188.1:n.61+379039T>C
XM_011513888.1:c.-24+193389T>C XP_011512190.1:n.-24+193389T>C
XM_011513885.3:c.88+127818T>C XP_011512187.1:n.88+127818T>C
NM_025221.6:c.61+379039T>C MANE Select NP_079497.2:n.61+379039T>C
NM_001035003.2:c.88+127818T>C NP_001030175.1:n.88+127818T>C
NM_147181.4:c.61+379039T>C NP_671710.1:n.61+379039T>C
NM_147182.4:c.-24+193389T>C NP_671711.1:n.-24+193389T>C