Canonical Allele Identifier: CA2627812632

Gene: IVD

Linked Data

• gnomAD v4: 15-40407788-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40407788C>A , CM000677.2:g.40407788C>A	GRCh38
NC_000015.9:g.40699989C>A , CM000677.1:g.40699989C>A	GRCh37
NC_000015.8:g.38487281C>A	NCBI36
NG_011986.1:g.7304C>A
NG_011986.2:g.7304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.145-151C>A	ENSP00000417990.3:n.145-151C>A
ENST00000487418.8:c.234+63C>A MANE Select	ENSP00000418397.3:n.234+63C>A
ENST00000610693.5:c.297C>A	ENSP00000479359.2:p.Ala99=
ENST00000650656.1:c.154-151C>A	ENSP00000498731.1:n.154-151C>A
ENST00000651168.1:c.243+63C>A	ENSP00000499074.1:n.243+63C>A
ENST00000479013.6:c.154-151C>A	ENSP00000417990.2:n.154-151C>A
ENST00000487418.6:c.243+63C>A	ENSP00000418397.2:n.243+63C>A
ENST00000558610.5:c.186+63C>A	ENSP00000453821.1:n.186+63C>A
ENST00000610693.4:c.306C>A	ENSP00000479359.1:p.Ala102=
NM_001159508.1:c.154-151C>A	NP_001152980.1:n.154-151C>A
NM_002225.3:c.243+63C>A	NP_002216.2:n.243+63C>A
XM_005254350.2:c.243+63C>A	XP_005254407.1:n.243+63C>A
XM_005254356.2:c.243+63C>A	XP_005254413.1:n.243+63C>A
XM_006720491.2:c.186+63C>A	XP_006720554.1:n.186+63C>A
XM_006720492.2:c.243+63C>A	XP_006720555.1:n.243+63C>A
XM_006720493.2:c.243+63C>A	XP_006720556.1:n.243+63C>A
XM_006720494.2:c.243+63C>A	XP_006720557.1:n.243+63C>A
XM_006720495.2:c.243+63C>A	XP_006720558.1:n.243+63C>A
XM_011521523.1:c.243+63C>A	XP_011519825.1:n.243+63C>A
XM_011521524.1:c.243+63C>A	XP_011519826.1:n.243+63C>A
XR_243097.3:n.243+63C>A
XR_243098.2:n.243+63C>A
XR_429453.2:n.344+63C>A
NM_001159508.2:c.145-151C>A	NP_001152980.2:n.145-151C>A
NM_001354597.2:c.186+63C>A	NP_001341526.1:n.186+63C>A
NM_001354598.2:c.234+63C>A	NP_001341527.2:n.234+63C>A
NM_001354599.2:c.297C>A	NP_001341528.2:p.Ala99=
NM_001354600.2:c.297C>A	NP_001341529.2:p.Ala99=
NM_001354601.2:c.234+63C>A	NP_001341530.2:n.234+63C>A
NM_002225.4:c.234+63C>A	NP_002216.3:n.234+63C>A
NR_148925.1:n.644+63C>A
XM_006720495.3:c.243+63C>A	XP_006720558.1:n.243+63C>A
XM_017022149.1:c.306C>A	XP_016877638.1:p.Ala102=
XM_017022150.1:c.306C>A	XP_016877639.1:p.Ala102=
XM_017022153.1:c.306C>A	XP_016877642.1:p.Ala102=
XM_017022154.2:c.249C>A	XP_016877643.1:p.Ala83=
XM_017022155.2:c.306C>A	XP_016877644.1:p.Ala102=
XM_017022157.1:c.306C>A	XP_016877646.1:p.Ala102=
XM_017022158.2:c.306C>A	XP_016877647.1:p.Ala102=
XR_001751263.1:n.593+63C>A
XR_001751264.1:n.634+63C>A
NM_001159508.3:c.145-151C>A	NP_001152980.2:n.145-151C>A
NM_001354597.3:c.186+63C>A	NP_001341526.1:n.186+63C>A
NM_001354598.3:c.234+63C>A	NP_001341527.2:n.234+63C>A
NM_001354599.3:c.297C>A	NP_001341528.2:p.Ala99=
NM_001354600.3:c.297C>A	NP_001341529.2:p.Ala99=
NM_001354601.3:c.234+63C>A	NP_001341530.2:n.234+63C>A
NM_002225.5:c.234+63C>A MANE Select	NP_002216.3:n.234+63C>A
NR_148925.2:n.646+63C>A