Canonical Allele Identifier: CA431672132

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 1651781
• ClinVar RCV Id: RCV002154159
• dbSNP Id: rs2149720794
• gnomAD v4: 2-227008114-G-C
• MyVariant Identifiers: chr2:g.227872830G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227008114G>C , CM000664.2:g.227008114G>C	GRCh38
NC_000002.11:g.227872830G>C , CM000664.1:g.227872830G>C	GRCh37
NC_000002.10:g.227581074G>C	NCBI36
NG_011592.1:g.161446C>G , LRG_231:g.161446C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682098.1:c.315C>G	ENSP00000508331.1:p.Ala105=
ENST00000396625.5:c.4713C>G MANE Select	ENSP00000379866.3:p.Ala1571=
ENST00000396625.3:c.4713C>G	ENSP00000379866.3:p.Ala1571=
NM_000092.4:c.4713C>G , LRG_231t1:c.4713C>G	NP_000083.3:p.Ala1571=
XM_005246281.2:c.4713C>G	XP_005246338.1:p.Ala1571=
XM_005246282.2:c.4158C>G	XP_005246339.1:p.Ala1386=
XM_006712246.2:c.4524C>G	XP_006712309.1:p.Ala1508=
XM_006712249.2:c.4713C>G	XP_006712312.1:p.Ala1571=
XM_006712252.2:c.4216+13934C>G	XP_006712315.1:n.4216+13934C>G
XM_011510557.1:c.4632C>G	XP_011508859.1:p.Ala1544=
XM_011510558.1:c.4605C>G	XP_011508860.1:p.Ala1535=
XM_011510559.1:c.4713C>G	XP_011508861.1:p.Ala1571=
XM_011510560.1:c.4713C>G	XP_011508862.1:p.Ala1571=
XM_011510561.1:c.4713C>G	XP_011508863.1:p.Ala1571=
XM_011510562.1:c.4713C>G	XP_011508864.1:p.Ala1571=
XM_011510563.1:c.*46C>G	XP_011508865.1:n.*46C>G
XM_011510564.1:c.*46C>G	XP_011508866.1:n.*46C>G
XM_011510565.1:c.4216+13934C>G	XP_011508867.1:n.4216+13934C>G
XM_011510566.1:c.4216+13934C>G	XP_011508868.1:n.4216+13934C>G
XM_011510567.1:c.4216+13934C>G	XP_011508869.1:n.4216+13934C>G
XM_011510569.1:c.4216+13934C>G	XP_011508871.1:n.4216+13934C>G
XM_011510570.1:c.4216+13934C>G	XP_011508872.1:n.4216+13934C>G
XM_011510571.1:c.4216+13934C>G	XP_011508873.1:n.4216+13934C>G
XM_011510572.1:c.3039C>G	XP_011508874.1:p.Ala1013=
XR_922837.1:n.5023C>G
XR_922838.1:n.5023C>G
XR_922839.1:n.4526+13934C>G
XR_922840.1:n.4526+13934C>G
XM_005246281.3:c.4713C>G	XP_005246338.1:p.Ala1571=
XM_005246282.3:c.4158C>G	XP_005246339.1:p.Ala1386=
XM_006712246.3:c.4524C>G	XP_006712309.1:p.Ala1508=
XM_011510557.2:c.4632C>G	XP_011508859.1:p.Ala1544=
XM_011510558.2:c.4605C>G	XP_011508860.1:p.Ala1535=
XM_011510559.2:c.4713C>G	XP_011508861.1:p.Ala1571=
XM_011510560.2:c.4713C>G	XP_011508862.1:p.Ala1571=
XM_011510561.2:c.4713C>G	XP_011508863.1:p.Ala1571=
XM_011510562.2:c.4713C>G	XP_011508864.1:p.Ala1571=
XM_011510565.2:c.4216+13934C>G	XP_011508867.1:n.4216+13934C>G
XM_011510566.2:c.4216+13934C>G	XP_011508868.1:n.4216+13934C>G
XM_011510567.2:c.4216+13934C>G	XP_011508869.1:n.4216+13934C>G
XM_011510569.2:c.4216+13934C>G	XP_011508871.1:n.4216+13934C>G
XM_011510570.2:c.4216+13934C>G	XP_011508872.1:n.4216+13934C>G
XM_011510572.3:c.3039C>G	XP_011508874.1:p.Ala1013=
XM_017003296.1:c.4713C>G	XP_016858785.1:p.Ala1571=
XM_017003297.1:c.4596C>G	XP_016858786.1:p.Ala1532=
XM_017003298.1:c.4713C>G	XP_016858787.1:p.Ala1571=
XM_017003300.1:c.4216+13934C>G	XP_016858789.1:n.4216+13934C>G
XR_001738602.1:n.5039C>G
XR_001738603.1:n.5039C>G
XR_001738604.1:n.4785C>G
XR_001738606.1:n.4542+13934C>G
XR_001738607.1:n.4542+13934C>G
XR_922837.2:n.5039C>G
NM_000092.5:c.4713C>G MANE Select	NP_000083.3:p.Ala1571=