Canonical Allele Identifier: CA408641744

Gene: NECAB3 C20orf144

Linked Data

• ClinVar Variation Id: 2258224
• ClinVar RCV Id: RCV004110968
• gnomAD v4: 20-33663844-C-G
• MyVariant Identifiers: chr20:g.32251650C>G (hg19) ; chr20:g.33663844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33663844C>G , CM000682.2:g.33663844C>G	GRCh38
NC_000020.10:g.32251650C>G , CM000682.1:g.32251650C>G	GRCh37
NC_000020.9:g.31715311C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246190.11:c.388-3449G>C (NECAB3) MANE Select	ENSP00000246190.6:n.388-3449G>C
ENST00000375222.4:c.439C>G (C20orf144) MANE Select	ENSP00000364370.3:p.Arg147Gly
ENST00000246190.10:c.388-3449G>C (NECAB3)	ENSP00000246190.6:n.388-3449G>C
ENST00000375222.3:c.439C>G (C20orf144)	ENSP00000364370.3:p.Arg147Gly
ENST00000375238.8:c.388-3449G>C (NECAB3)	ENSP00000364386.4:n.388-3449G>C
ENST00000439478.5:c.388-3449G>C (NECAB3)	ENSP00000392064.1:n.388-3449G>C
ENST00000480994.5:c.-277+2737G>C (NECAB3)	ENSP00000475834.1:n.-277+2737G>C
ENST00000485399.5:c.388-3449G>C (NECAB3)	ENSP00000475369.1:n.388-3449G>C
ENST00000488489.5:c.*212-3449G>C (NECAB3)	ENSP00000475938.1:n.*212-3449G>C
ENST00000493590.1:c.*140-3449G>C (NECAB3)	ENSP00000475755.1:n.*140-3449G>C
ENST00000494174.5:n.55-3449G>C (NECAB3)
ENST00000606106.1:n.122+2737G>C (NECAB3)
ENST00000606690.5:c.388-3449G>C (NECAB3)	ENSP00000475420.1:n.388-3449G>C
ENST00000606699.5:n.878-3449G>C (NECAB3)
ENST00000607738.1:n.479C>G (C20orf144)
ENST00000607805.5:c.388-3449G>C (NECAB3)	ENSP00000476044.1:n.388-3449G>C
NM_031231.3:c.388-3449G>C (NECAB3)	NP_112508.3:n.388-3449G>C
NM_031232.3:c.388-3449G>C (NECAB3)	NP_112509.3:n.388-3449G>C
NM_080825.3:c.439C>G (C20orf144)	NP_543015.1:p.Arg147Gly
XM_005260510.1:c.388-3449G>C (NECAB3)	XP_005260567.1:n.388-3449G>C
XM_011528988.1:c.-128+2737G>C (NECAB3)	XP_011527290.1:n.-128+2737G>C
XM_011528992.1:c.388-3449G>C (NECAB3)	XP_011527294.1:n.388-3449G>C
XR_244145.1:n.464-3449G>C (NECAB3)
XM_011528992.2:c.388-3449G>C (NECAB3)	XP_011527294.1:n.388-3449G>C
XM_017028015.1:c.-128+2737G>C (NECAB3)	XP_016883504.1:n.-128+2737G>C
XR_002958502.1:n.464-3449G>C (NECAB3)
NM_080825.4:c.439C>G (C20orf144) MANE Select	NP_543015.1:p.Arg147Gly
NM_031231.4:c.388-3449G>C (NECAB3)	NP_112508.3:n.388-3449G>C
NM_031232.4:c.388-3449G>C (NECAB3) MANE Select	NP_112509.3:n.388-3449G>C