Canonical Allele Identifier: CA132381553

Gene: KCNIP1

Linked Data

• dbSNP Id: rs544359733
• gnomAD v3: 5-170523446-C-T
• gnomAD v4: 5-170523446-C-T
• MyVariant Identifiers: chr5:g.169950450C>T (hg19) ; chr5:g.170523446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.170523446C>T , CM000667.2:g.170523446C>T	GRCh38
NC_000005.9:g.169950450C>T , CM000667.1:g.169950450C>T	GRCh37
NC_000005.8:g.169883028C>T	NCBI36
NG_011538.1:g.174570C>T
NG_011538.2:g.174570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328939.9:c.61+18813C>T MANE Select	ENSP00000329686.4:n.61+18813C>T
ENST00000328939.8:c.61+18813C>T	ENSP00000329686.4:n.61+18813C>T
ENST00000377360.8:c.88+169482C>T	ENSP00000366577.4:n.88+169482C>T
ENST00000390656.8:c.-165+18813C>T	ENSP00000375071.5:n.-165+18813C>T
ENST00000411494.5:c.61+18813C>T	ENSP00000395323.1:n.61+18813C>T
ENST00000434108.5:c.61+18813C>T	ENSP00000414886.1:n.61+18813C>T
ENST00000520740.5:c.-186+18813C>T	ENSP00000431102.1:n.-186+18813C>T
NM_001034837.2:c.61+18813C>T	NP_001030009.1:n.61+18813C>T
NM_001034838.2:c.88+169482C>T	NP_001030010.1:n.88+169482C>T
NM_001278339.1:c.61+18813C>T	NP_001265268.1:n.61+18813C>T
NM_001278340.1:c.-186+18813C>T	NP_001265269.1:n.-186+18813C>T
NM_014592.3:c.61+18813C>T	NP_055407.1:n.61+18813C>T
XM_006714861.1:c.136+40251C>T	XP_006714924.1:n.136+40251C>T
XM_011534539.1:c.241+37470C>T	XP_011532841.1:n.241+37470C>T
XM_017009407.1:c.88+169482C>T	XP_016864896.1:n.88+169482C>T
NM_001034837.3:c.61+18813C>T	NP_001030009.1:n.61+18813C>T
NM_001034838.3:c.88+169482C>T	NP_001030010.1:n.88+169482C>T
NM_001278339.2:c.61+18813C>T	NP_001265268.1:n.61+18813C>T
NM_001278340.2:c.-186+18813C>T	NP_001265269.1:n.-186+18813C>T
NM_014592.4:c.61+18813C>T MANE Select	NP_055407.1:n.61+18813C>T