Canonical Allele Identifier: CA351140119

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 522489
• ClinVar RCV Id: RCV000625631
• dbSNP Id: rs1553611876
• MyVariant Identifiers: chr2:g.227872166A>G (hg19) ; chr2:g.227007450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227007450A>G , CM000664.2:g.227007450A>G	GRCh38
NC_000002.11:g.227872166A>G , CM000664.1:g.227872166A>G	GRCh37
NC_000002.10:g.227580410A>G	NCBI36
NG_011592.1:g.162110T>C , LRG_231:g.162110T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682098.1:c.550T>C	ENSP00000508331.1:p.Phe184Leu
ENST00000396625.5:c.4948T>C MANE Select	ENSP00000379866.3:p.Phe1650Leu
ENST00000396625.3:c.4948T>C	ENSP00000379866.3:p.Phe1650Leu
NM_000092.4:c.4948T>C , LRG_231t1:c.4948T>C	NP_000083.3:p.Phe1650Leu
XM_005246281.2:c.4948T>C	XP_005246338.1:p.Phe1650Leu
XM_005246282.2:c.4393T>C	XP_005246339.1:p.Phe1465Leu
XM_006712246.2:c.4759T>C	XP_006712309.1:p.Phe1587Leu
XM_006712249.2:c.4809+568T>C	XP_006712312.1:n.4809+568T>C
XM_006712252.2:c.4216+14598T>C	XP_006712315.1:n.4216+14598T>C
XM_011510557.1:c.4867T>C	XP_011508859.1:p.Phe1623Leu
XM_011510558.1:c.4840T>C	XP_011508860.1:p.Phe1614Leu
XM_011510559.1:c.4809+568T>C	XP_011508861.1:n.4809+568T>C
XM_011510560.1:c.4809+568T>C	XP_011508862.1:n.4809+568T>C
XM_011510561.1:c.4809+568T>C	XP_011508863.1:n.4809+568T>C
XM_011510562.1:c.4809+568T>C	XP_011508864.1:n.4809+568T>C
XM_011510565.1:c.4216+14598T>C	XP_011508867.1:n.4216+14598T>C
XM_011510566.1:c.4216+14598T>C	XP_011508868.1:n.4216+14598T>C
XM_011510567.1:c.4216+14598T>C	XP_011508869.1:n.4216+14598T>C
XM_011510569.1:c.4216+14598T>C	XP_011508871.1:n.4216+14598T>C
XM_011510570.1:c.4216+14598T>C	XP_011508872.1:n.4216+14598T>C
XM_011510571.1:c.4216+14598T>C	XP_011508873.1:n.4216+14598T>C
XM_011510572.1:c.3274T>C	XP_011508874.1:p.Phe1092Leu
XR_922837.1:n.5119+568T>C
XR_922838.1:n.5119+568T>C
XR_922839.1:n.4526+14598T>C
XR_922840.1:n.4526+14598T>C
XM_005246281.3:c.4948T>C	XP_005246338.1:p.Phe1650Leu
XM_005246282.3:c.4393T>C	XP_005246339.1:p.Phe1465Leu
XM_006712246.3:c.4759T>C	XP_006712309.1:p.Phe1587Leu
XM_011510557.2:c.4867T>C	XP_011508859.1:p.Phe1623Leu
XM_011510558.2:c.4840T>C	XP_011508860.1:p.Phe1614Leu
XM_011510559.2:c.4809+568T>C	XP_011508861.1:n.4809+568T>C
XM_011510560.2:c.4809+568T>C	XP_011508862.1:n.4809+568T>C
XM_011510561.2:c.4809+568T>C	XP_011508863.1:n.4809+568T>C
XM_011510562.2:c.4809+568T>C	XP_011508864.1:n.4809+568T>C
XM_011510565.2:c.4216+14598T>C	XP_011508867.1:n.4216+14598T>C
XM_011510566.2:c.4216+14598T>C	XP_011508868.1:n.4216+14598T>C
XM_011510567.2:c.4216+14598T>C	XP_011508869.1:n.4216+14598T>C
XM_011510569.2:c.4216+14598T>C	XP_011508871.1:n.4216+14598T>C
XM_011510570.2:c.4216+14598T>C	XP_011508872.1:n.4216+14598T>C
XM_011510572.3:c.3274T>C	XP_011508874.1:p.Phe1092Leu
XM_017003297.1:c.4831T>C	XP_016858786.1:p.Phe1611Leu
XM_017003298.1:c.4809+568T>C	XP_016858787.1:n.4809+568T>C
XM_017003300.1:c.4216+14598T>C	XP_016858789.1:n.4216+14598T>C
XR_001738602.1:n.5135+568T>C
XR_001738603.1:n.5135+568T>C
XR_001738604.1:n.5020T>C
XR_001738606.1:n.4542+14598T>C
XR_001738607.1:n.4542+14598T>C
XR_922837.2:n.5135+568T>C
NM_000092.5:c.4948T>C MANE Select	NP_000083.3:p.Phe1650Leu