Canonical Allele Identifier: CA257916

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 17405
• ClinVar RCV Id: RCV000018948 ; RCV002513114 ; RCV002496408
• dbSNP Id: rs121912859
• MyVariant Identifiers: chr2:g.227896765G>T (hg19) ; chr2:g.227032049G>T (hg38)
• PubMed: PMID:7987396 ; PMID:9195222

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227032049G>T , CM000664.2:g.227032049G>T	GRCh38
NC_000002.11:g.227896765G>T , CM000664.1:g.227896765G>T	GRCh37
NC_000002.10:g.227605009G>T	NCBI36
NG_011592.1:g.137511C>A , LRG_231:g.137511C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396625.5:c.3713C>A MANE Select	ENSP00000379866.3:p.Ser1238Ter
ENST00000396625.3:c.3713C>A	ENSP00000379866.3:p.Ser1238Ter
NM_000092.4:c.3713C>A , LRG_231t1:c.3713C>A	NP_000083.3:p.Ser1238Ter
XM_005246281.2:c.3713C>A	XP_005246338.1:p.Ser1238Ter
XM_005246282.2:c.3158C>A	XP_005246339.1:p.Ser1053Ter
XM_006712246.2:c.3713C>A	XP_006712309.1:p.Ser1238Ter
XM_006712249.2:c.3713C>A	XP_006712312.1:p.Ser1238Ter
XM_006712251.2:c.3713C>A	XP_006712314.1:p.Ser1238Ter
XM_006712252.2:c.3713C>A	XP_006712315.1:p.Ser1238Ter
XM_011510557.1:c.3632C>A	XP_011508859.1:p.Ser1211Ter
XM_011510558.1:c.3605C>A	XP_011508860.1:p.Ser1202Ter
XM_011510559.1:c.3713C>A	XP_011508861.1:p.Ser1238Ter
XM_011510560.1:c.3713C>A	XP_011508862.1:p.Ser1238Ter
XM_011510561.1:c.3713C>A	XP_011508863.1:p.Ser1238Ter
XM_011510562.1:c.3713C>A	XP_011508864.1:p.Ser1238Ter
XM_011510563.1:c.3713C>A	XP_011508865.1:p.Ser1238Ter
XM_011510564.1:c.3713C>A	XP_011508866.1:p.Ser1238Ter
XM_011510565.1:c.3713C>A	XP_011508867.1:p.Ser1238Ter
XM_011510566.1:c.3713C>A	XP_011508868.1:p.Ser1238Ter
XM_011510567.1:c.3713C>A	XP_011508869.1:p.Ser1238Ter
XM_011510568.1:c.3713C>A	XP_011508870.1:p.Ser1238Ter
XM_011510569.1:c.3713C>A	XP_011508871.1:p.Ser1238Ter
XM_011510570.1:c.3713C>A	XP_011508872.1:p.Ser1238Ter
XM_011510571.1:c.3713C>A	XP_011508873.1:p.Ser1238Ter
XM_011510572.1:c.2039C>A	XP_011508874.1:p.Ser680Ter
XR_922837.1:n.4023C>A
XR_922838.1:n.4023C>A
XR_922839.1:n.4023C>A
XR_922840.1:n.4023C>A
XM_005246281.3:c.3713C>A	XP_005246338.1:p.Ser1238Ter
XM_005246282.3:c.3158C>A	XP_005246339.1:p.Ser1053Ter
XM_006712246.3:c.3713C>A	XP_006712309.1:p.Ser1238Ter
XM_011510557.2:c.3632C>A	XP_011508859.1:p.Ser1211Ter
XM_011510558.2:c.3605C>A	XP_011508860.1:p.Ser1202Ter
XM_011510559.2:c.3713C>A	XP_011508861.1:p.Ser1238Ter
XM_011510560.2:c.3713C>A	XP_011508862.1:p.Ser1238Ter
XM_011510561.2:c.3713C>A	XP_011508863.1:p.Ser1238Ter
XM_011510562.2:c.3713C>A	XP_011508864.1:p.Ser1238Ter
XM_011510565.2:c.3713C>A	XP_011508867.1:p.Ser1238Ter
XM_011510566.2:c.3713C>A	XP_011508868.1:p.Ser1238Ter
XM_011510567.2:c.3713C>A	XP_011508869.1:p.Ser1238Ter
XM_011510568.2:c.3713C>A	XP_011508870.1:p.Ser1238Ter
XM_011510569.2:c.3713C>A	XP_011508871.1:p.Ser1238Ter
XM_011510570.2:c.3713C>A	XP_011508872.1:p.Ser1238Ter
XM_011510572.3:c.2039C>A	XP_011508874.1:p.Ser680Ter
XM_017003296.1:c.3713C>A	XP_016858785.1:p.Ser1238Ter
XM_017003297.1:c.3596C>A	XP_016858786.1:p.Ser1199Ter
XM_017003298.1:c.3713C>A	XP_016858787.1:p.Ser1238Ter
XM_017003299.1:c.3713C>A	XP_016858788.1:p.Ser1238Ter
XM_017003300.1:c.3713C>A	XP_016858789.1:p.Ser1238Ter
XR_001738602.1:n.4039C>A
XR_001738603.1:n.4039C>A
XR_001738604.1:n.4039C>A
XR_001738606.1:n.4039C>A
XR_001738607.1:n.4039C>A
XR_922837.2:n.4039C>A
NM_000092.5:c.3713C>A MANE Select	NP_000083.3:p.Ser1238Ter