Canonical Allele Identifier: CA132381552

Gene: KCNIP1

Linked Data

• dbSNP Id: rs1018547444
• gnomAD v3: 5-170523441-G-A
• gnomAD v4: 5-170523441-G-A
• COSMIC: COSN2087396
• MyVariant Identifiers: chr5:g.169950445G>A (hg19) ; chr5:g.170523441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.170523441G>A , CM000667.2:g.170523441G>A	GRCh38
NC_000005.9:g.169950445G>A , CM000667.1:g.169950445G>A	GRCh37
NC_000005.8:g.169883023G>A	NCBI36
NG_011538.1:g.174565G>A
NG_011538.2:g.174565G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328939.9:c.61+18808G>A MANE Select	ENSP00000329686.4:n.61+18808G>A
ENST00000328939.8:c.61+18808G>A	ENSP00000329686.4:n.61+18808G>A
ENST00000377360.8:c.88+169477G>A	ENSP00000366577.4:n.88+169477G>A
ENST00000390656.8:c.-165+18808G>A	ENSP00000375071.5:n.-165+18808G>A
ENST00000411494.5:c.61+18808G>A	ENSP00000395323.1:n.61+18808G>A
ENST00000434108.5:c.61+18808G>A	ENSP00000414886.1:n.61+18808G>A
ENST00000520740.5:c.-186+18808G>A	ENSP00000431102.1:n.-186+18808G>A
NM_001034837.2:c.61+18808G>A	NP_001030009.1:n.61+18808G>A
NM_001034838.2:c.88+169477G>A	NP_001030010.1:n.88+169477G>A
NM_001278339.1:c.61+18808G>A	NP_001265268.1:n.61+18808G>A
NM_001278340.1:c.-186+18808G>A	NP_001265269.1:n.-186+18808G>A
NM_014592.3:c.61+18808G>A	NP_055407.1:n.61+18808G>A
XM_006714861.1:c.136+40246G>A	XP_006714924.1:n.136+40246G>A
XM_011534539.1:c.241+37465G>A	XP_011532841.1:n.241+37465G>A
XM_017009407.1:c.88+169477G>A	XP_016864896.1:n.88+169477G>A
NM_001034837.3:c.61+18808G>A	NP_001030009.1:n.61+18808G>A
NM_001034838.3:c.88+169477G>A	NP_001030010.1:n.88+169477G>A
NM_001278339.2:c.61+18808G>A	NP_001265268.1:n.61+18808G>A
NM_001278340.2:c.-186+18808G>A	NP_001265269.1:n.-186+18808G>A
NM_014592.4:c.61+18808G>A MANE Select	NP_055407.1:n.61+18808G>A