Canonical Allele Identifier: CA93956178
Gene: KCNIP4 HGNC NCBI

Linked Data

dbSNP Id: rs16871290
gnomAD v2: 4-21511416-T-C
gnomAD v3: 4-21509793-T-C
gnomAD v4: 4-21509793-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.21509793T>C , CM000666.2:g.21509793T>C GRCh38
NC_000004.11:g.21511416T>C , CM000666.1:g.21511416T>C GRCh37
NC_000004.10:g.21120514T>C NCBI36
NG_052969.1:g.443959A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382152.7:c.61+438778A>G MANE Select ENSP00000371587.2:n.61+438778A>G
ENST00000382148.7:c.88+187557A>G ENSP00000371583.3:n.88+187557A>G
ENST00000382152.6:c.61+438778A>G ENSP00000371587.2:n.61+438778A>G
ENST00000447367.6:c.61+438778A>G ENSP00000399080.2:n.61+438778A>G
ENST00000509207.1:c.-24+34597A>G ENSP00000423257.1:n.-24+34597A>G
ENST00000515786.2:c.173+253128A>G ENSP00000445321.1:n.173+253128A>G
NM_001035003.1:c.88+187557A>G NP_001030175.1:n.88+187557A>G
NM_001035004.1:c.-24+34597A>G NP_001030176.1:n.-24+34597A>G
NM_025221.5:c.61+438778A>G NP_079497.2:n.61+438778A>G
NM_147181.3:c.61+438778A>G NP_671710.1:n.61+438778A>G
NM_147182.3:c.-24+253128A>G NP_671711.1:n.-24+253128A>G
XM_011513882.1:c.61+438778A>G XP_011512184.1:n.61+438778A>G
XM_011513885.1:c.88+187557A>G XP_011512187.1:n.88+187557A>G
XM_011513886.1:c.61+438778A>G XP_011512188.1:n.61+438778A>G
XM_011513887.1:c.-24+34597A>G XP_011512189.1:n.-24+34597A>G
XM_011513888.1:c.-24+253128A>G XP_011512190.1:n.-24+253128A>G
XM_011513885.3:c.88+187557A>G XP_011512187.1:n.88+187557A>G
XM_011513887.2:c.-24+34597A>G XP_011512189.1:n.-24+34597A>G
NM_025221.6:c.61+438778A>G MANE Select NP_079497.2:n.61+438778A>G
NM_001035003.2:c.88+187557A>G NP_001030175.1:n.88+187557A>G
NM_001035004.2:c.-24+34597A>G NP_001030176.1:n.-24+34597A>G
NM_147181.4:c.61+438778A>G NP_671710.1:n.61+438778A>G
NM_147182.4:c.-24+253128A>G NP_671711.1:n.-24+253128A>G