Canonical Allele Identifier: CA2627814947

Gene: IVD

Linked Data

• gnomAD v4: 15-40411373-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411373G>C , CM000677.2:g.40411373G>C	GRCh38
NC_000015.9:g.40703572G>C , CM000677.1:g.40703572G>C	GRCh37
NC_000015.8:g.38490864G>C	NCBI36
NG_011986.1:g.10887G>C
NG_011986.2:g.10889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.460+20G>C	ENSP00000417990.3:n.460+20G>C
ENST00000487418.8:c.550+20G>C MANE Select	ENSP00000418397.3:n.550+20G>C
ENST00000650656.1:c.469+20G>C	ENSP00000498731.1:n.469+20G>C
ENST00000651168.1:c.559+20G>C	ENSP00000499074.1:n.559+20G>C
ENST00000473112.6:c.309+20G>C
ENST00000479013.6:c.469+20G>C	ENSP00000417990.2:n.469+20G>C
ENST00000481262.6:c.156+20G>C
ENST00000484250.1:n.173+20G>C
ENST00000487418.6:c.559+20G>C	ENSP00000418397.2:n.559+20G>C
ENST00000558610.5:c.502+20G>C	ENSP00000453821.1:n.502+20G>C
NM_001159508.1:c.469+20G>C	NP_001152980.1:n.469+20G>C
NM_002225.3:c.559+20G>C	NP_002216.2:n.559+20G>C
XM_005254350.2:c.559+20G>C	XP_005254407.1:n.559+20G>C
XM_005254356.2:c.559+20G>C	XP_005254413.1:n.559+20G>C
XM_006720491.2:c.502+20G>C	XP_006720554.1:n.502+20G>C
XM_006720492.2:c.559+20G>C	XP_006720555.1:n.559+20G>C
XM_006720493.2:c.559+20G>C	XP_006720556.1:n.559+20G>C
XM_006720494.2:c.559+20G>C	XP_006720557.1:n.559+20G>C
XM_006720495.2:c.559+20G>C	XP_006720558.1:n.559+20G>C
XM_011521523.1:c.559+20G>C	XP_011519825.1:n.559+20G>C
XM_011521524.1:c.559+20G>C	XP_011519826.1:n.559+20G>C
XR_243097.3:n.559+20G>C
XR_243098.2:n.559+20G>C
XR_429453.2:n.660+20G>C
NM_001159508.2:c.460+20G>C	NP_001152980.2:n.460+20G>C
NM_001354597.2:c.502+20G>C	NP_001341526.1:n.502+20G>C
NM_001354598.2:c.550+20G>C	NP_001341527.2:n.550+20G>C
NM_001354599.2:c.637+20G>C	NP_001341528.2:n.637+20G>C
NM_001354600.2:c.637+20G>C	NP_001341529.2:n.637+20G>C
NM_001354601.2:c.550+20G>C	NP_001341530.2:n.550+20G>C
NM_002225.4:c.550+20G>C	NP_002216.3:n.550+20G>C
NR_148925.1:n.960+20G>C
XM_006720495.3:c.559+20G>C	XP_006720558.1:n.559+20G>C
XM_017022149.1:c.646+20G>C	XP_016877638.1:n.646+20G>C
XM_017022150.1:c.646+20G>C	XP_016877639.1:n.646+20G>C
XM_017022153.1:c.646+20G>C	XP_016877642.1:n.646+20G>C
XM_017022154.2:c.589+20G>C	XP_016877643.1:n.589+20G>C
XM_017022155.2:c.646+20G>C	XP_016877644.1:n.646+20G>C
XM_017022157.1:c.646+20G>C	XP_016877646.1:n.646+20G>C
XM_017022158.2:c.646+20G>C	XP_016877647.1:n.646+20G>C
XR_001751263.1:n.909+20G>C
XR_001751264.1:n.950+20G>C
NM_001159508.3:c.460+20G>C	NP_001152980.2:n.460+20G>C
NM_001354597.3:c.502+20G>C	NP_001341526.1:n.502+20G>C
NM_001354598.3:c.550+20G>C	NP_001341527.2:n.550+20G>C
NM_001354599.3:c.637+20G>C	NP_001341528.2:n.637+20G>C
NM_001354600.3:c.637+20G>C	NP_001341529.2:n.637+20G>C
NM_001354601.3:c.550+20G>C	NP_001341530.2:n.550+20G>C
NM_002225.5:c.550+20G>C MANE Select	NP_002216.3:n.550+20G>C
NR_148925.2:n.962+20G>C