Canonical Allele Identifier: CA6432205

Gene: NECAP1

Linked Data

• ClinVar Variation Id: 541853
• ClinVar RCV Id: RCV000652193
• dbSNP Id: rs149036367
• ExAC: 12:8242846 G / A
• gnomAD v2: 12-8242846-G-A
• gnomAD v3: 12-8090250-G-A
• gnomAD v4: 12-8090250-G-A
• MyVariant Identifiers: chr12:g.8242846G>A (hg19) ; chr12:g.8090250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8090250G>A , CM000674.2:g.8090250G>A	GRCh38
NC_000012.11:g.8242846G>A , CM000674.1:g.8242846G>A	GRCh37
NC_000012.10:g.8134113G>A	NCBI36
NG_034155.1:g.13040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339754.11:c.252G>A MANE Select	ENSP00000341737.5:p.Thr84=
ENST00000537796.2:n.261G>A
ENST00000541948.2:c.252G>A	ENSP00000440658.2:p.Thr84=
ENST00000542095.6:n.286G>A
ENST00000544891.6:n.261G>A
ENST00000545807.6:n.391G>A
ENST00000546181.2:n.471G>A
ENST00000638237.1:c.252G>A	ENSP00000492254.1:p.Thr84=
ENST00000638787.1:c.252G>A	ENSP00000491384.1:p.Thr84=
ENST00000638883.1:n.250G>A
ENST00000639038.1:c.252G>A	ENSP00000492452.1:p.Thr84=
ENST00000639071.1:n.267G>A
ENST00000639167.1:c.96-2426G>A	ENSP00000490999.1:n.96-2426G>A
ENST00000639276.1:n.431G>A
ENST00000639595.1:c.252G>A	ENSP00000492560.1:p.Thr84=
ENST00000639811.1:c.252G>A	ENSP00000492554.1:p.Thr84=
ENST00000639955.1:c.252G>A	ENSP00000491067.1:p.Thr84=
ENST00000640072.1:n.1203G>A
ENST00000640099.1:n.264G>A
ENST00000640209.1:c.252G>A	ENSP00000492613.1:p.Thr84=
ENST00000640481.1:n.241G>A
ENST00000640648.1:n.646G>A
ENST00000339754.9:c.252G>A	ENSP00000341737.5:p.Thr84=
ENST00000450991.6:c.252G>A	ENSP00000401963.2:p.Thr84=
ENST00000540083.1:c.-175G>A	ENSP00000439319.1:n.-175G>A
ENST00000541948.1:c.252G>A	ENSP00000440658.1:p.Thr84=
ENST00000542095.5:n.286G>A
ENST00000544891.5:n.271G>A
ENST00000545807.5:n.431G>A
ENST00000546181.1:n.471G>A
NM_015509.3:c.252G>A	NP_056324.2:p.Thr84=
NR_024260.1:n.330G>A
NM_015509.4:c.252G>A MANE Select	NP_056324.2:p.Thr84=
NR_024260.2:n.267G>A