Canonical Allele Identifier: CA7480467

Gene: IVD

Linked Data

• ClinVar Variation Id: 948558
• ClinVar RCV Id: RCV001219842
• dbSNP Id: rs748160492
• ExAC: 15:40698045 G / A
• gnomAD v2: 15-40698045-G-A
• gnomAD v4: 15-40405844-G-A
• MyVariant Identifiers: chr15:g.40698045G>A (hg19) ; chr15:g.40405844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40405844G>A , CM000677.2:g.40405844G>A	GRCh38
NC_000015.9:g.40698045G>A , CM000677.1:g.40698045G>A	GRCh37
NC_000015.8:g.38485337G>A	NCBI36
NG_011986.1:g.5360G>A
NG_011986.2:g.5360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.17G>A	ENSP00000417990.3:p.Arg6Gln
ENST00000487418.8:c.17G>A MANE Select	ENSP00000418397.3:p.Arg6Gln
ENST00000610693.5:c.17G>A	ENSP00000479359.2:p.Arg6Gln
ENST00000650656.1:c.26G>A	ENSP00000498731.1:p.Arg9Gln
ENST00000651168.1:c.26G>A	ENSP00000499074.1:p.Arg9Gln
ENST00000479013.6:c.26G>A	ENSP00000417990.2:p.Arg9Gln
ENST00000487418.6:c.26G>A	ENSP00000418397.2:p.Arg9Gln
ENST00000610693.4:c.26G>A	ENSP00000479359.1:p.Arg9Gln
NM_001159508.1:c.26G>A	NP_001152980.1:p.Arg9Gln
NM_002225.3:c.26G>A	NP_002216.2:p.Arg9Gln
XM_005254350.2:c.26G>A	XP_005254407.1:p.Arg9Gln
XM_005254356.2:c.26G>A	XP_005254413.1:p.Arg9Gln
XM_006720492.2:c.26G>A	XP_006720555.1:p.Arg9Gln
XM_006720493.2:c.26G>A	XP_006720556.1:p.Arg9Gln
XM_006720494.2:c.26G>A	XP_006720557.1:p.Arg9Gln
XM_006720495.2:c.26G>A	XP_006720558.1:p.Arg9Gln
XM_011521523.1:c.26G>A	XP_011519825.1:p.Arg9Gln
XM_011521524.1:c.26G>A	XP_011519826.1:p.Arg9Gln
XR_243097.3:n.26G>A
XR_243098.2:n.26G>A
XR_429453.2:n.127G>A
NM_001159508.2:c.17G>A	NP_001152980.2:p.Arg6Gln
NM_001354597.2:c.-411G>A	NP_001341526.1:n.-411G>A
NM_001354598.2:c.17G>A	NP_001341527.2:p.Arg6Gln
NM_001354599.2:c.17G>A	NP_001341528.2:p.Arg6Gln
NM_001354600.2:c.17G>A	NP_001341529.2:p.Arg6Gln
NM_001354601.2:c.17G>A	NP_001341530.2:p.Arg6Gln
NM_002225.4:c.17G>A	NP_002216.3:p.Arg6Gln
NR_148925.1:n.48G>A
XM_006720495.3:c.26G>A	XP_006720558.1:p.Arg9Gln
XM_017022149.1:c.26G>A	XP_016877638.1:p.Arg9Gln
XM_017022150.1:c.26G>A	XP_016877639.1:p.Arg9Gln
XM_017022153.1:c.26G>A	XP_016877642.1:p.Arg9Gln
XM_017022155.2:c.26G>A	XP_016877644.1:p.Arg9Gln
XM_017022157.1:c.26G>A	XP_016877646.1:p.Arg9Gln
XM_017022158.2:c.26G>A	XP_016877647.1:p.Arg9Gln
XR_001751264.1:n.38G>A
NM_001159508.3:c.17G>A	NP_001152980.2:p.Arg6Gln
NM_001354597.3:c.-411G>A	NP_001341526.1:n.-411G>A
NM_001354598.3:c.17G>A	NP_001341527.2:p.Arg6Gln
NM_001354599.3:c.17G>A	NP_001341528.2:p.Arg6Gln
NM_001354600.3:c.17G>A	NP_001341529.2:p.Arg6Gln
NM_001354601.3:c.17G>A	NP_001341530.2:p.Arg6Gln
NM_002225.5:c.17G>A MANE Select	NP_002216.3:p.Arg6Gln
NR_148925.2:n.50G>A