Canonical Allele Identifier: CA391724495

Gene: IVD

Linked Data

• gnomAD v4: 15-40418183-A-C
• MyVariant Identifiers: chr15:g.40710382A>C (hg19) ; chr15:g.40418183A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40418183A>C , CM000677.2:g.40418183A>C	GRCh38
NC_000015.9:g.40710382A>C , CM000677.1:g.40710382A>C	GRCh37
NC_000015.8:g.38497674A>C	NCBI36
NG_011986.1:g.17697A>C
NG_011986.2:g.17699A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000479013.7:c.1102A>C	ENSP00000417990.3:p.Lys368Gln
ENST00000487418.8:c.1192A>C MANE Select	ENSP00000418397.3:p.Lys398Gln
ENST00000650656.1:c.1111A>C	ENSP00000498731.1:p.Lys371Gln
ENST00000651168.1:c.1201A>C	ENSP00000499074.1:p.Lys401Gln
ENST00000466756.2:c.89+1821A>C
ENST00000473112.6:c.719+2701A>C
ENST00000479013.6:c.1111A>C	ENSP00000417990.2:p.Lys371Gln
ENST00000481262.6:c.650+1821A>C
ENST00000487418.6:c.1201A>C	ENSP00000418397.2:p.Lys401Gln
ENST00000491554.6:c.535+1821A>C	ENSP00000453146.1:n.535+1821A>C
ENST00000497816.1:n.569A>C
ENST00000559575.5:c.102-997A>C
NM_001159508.1:c.1111A>C	NP_001152980.1:p.Lys371Gln
NM_002225.3:c.1201A>C	NP_002216.2:p.Lys401Gln
XM_005254350.2:c.1147+1821A>C	XP_005254407.1:n.1147+1821A>C
XM_005254356.2:c.875+2701A>C	XP_005254413.1:n.875+2701A>C
XM_006720491.2:c.1090+1821A>C	XP_006720554.1:n.1090+1821A>C
XM_006720492.2:c.1147+1821A>C	XP_006720555.1:n.1147+1821A>C
XM_006720493.2:c.1147+1821A>C	XP_006720556.1:n.1147+1821A>C
XM_006720494.2:c.1148-997A>C	XP_006720557.1:n.1148-997A>C
XM_006720495.2:c.969+2701A>C	XP_006720558.1:n.969+2701A>C
XM_011521523.1:c.1147+1821A>C	XP_011519825.1:n.1147+1821A>C
XR_243097.3:n.1107A>C
XR_243098.2:n.1053+1821A>C
XR_429453.2:n.1302A>C
NM_001159508.2:c.1102A>C	NP_001152980.2:p.Lys368Gln
NM_001354597.2:c.1144A>C	NP_001341526.1:p.Lys382Gln
NM_001354598.2:c.1138+1821A>C	NP_001341527.2:n.1138+1821A>C
NM_001354599.2:c.1279A>C	NP_001341528.2:p.Lys427Gln
NM_001354600.2:c.1225+1821A>C	NP_001341529.2:n.1225+1821A>C
NM_001354601.2:c.1138+1821A>C	NP_001341530.2:n.1138+1821A>C
NM_002225.4:c.1192A>C	NP_002216.3:p.Lys398Gln
NR_148925.1:n.1548+1821A>C
XM_006720495.3:c.969+2701A>C	XP_006720558.1:n.969+2701A>C
XM_017022149.1:c.1234+1821A>C	XP_016877638.1:n.1234+1821A>C
XM_017022150.1:c.1234+1821A>C	XP_016877639.1:n.1234+1821A>C
XM_017022153.1:c.1234+1821A>C	XP_016877642.1:n.1234+1821A>C
XM_017022154.2:c.1231A>C	XP_016877643.1:p.Lys411Gln
XM_017022155.2:c.1235-997A>C	XP_016877644.1:n.1235-997A>C
XM_017022157.1:c.1056+2701A>C	XP_016877646.1:n.1056+2701A>C
XR_001751263.1:n.1551A>C
NM_001159508.3:c.1102A>C	NP_001152980.2:p.Lys368Gln
NM_001354597.3:c.1144A>C	NP_001341526.1:p.Lys382Gln
NM_001354598.3:c.1138+1821A>C	NP_001341527.2:n.1138+1821A>C
NM_001354599.3:c.1279A>C	NP_001341528.2:p.Lys427Gln
NM_001354600.3:c.1225+1821A>C	NP_001341529.2:n.1225+1821A>C
NM_001354601.3:c.1138+1821A>C	NP_001341530.2:n.1138+1821A>C
NM_002225.5:c.1192A>C MANE Select	NP_002216.3:p.Lys398Gln
NR_148925.2:n.1550+1821A>C