Canonical Allele Identifier: CA2450721598

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694880C= , CM000685.2:g.108694880C=	GRCh38
NC_000023.10:g.107938110C= , CM000685.1:g.107938110C=	GRCh37
NC_000023.9:g.107824766C=	NCBI36
NG_011977.1:g.259957C=
NG_011977.2:g.259957C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4780C= MANE Select	ENSP00000331902.7:p.Gln1594=
ENST00000361603.7:c.4762C=	ENSP00000354505.2:p.Gln1588=
ENST00000510690.2:n.1274C=
ENST00000644079.1:n.1266C=
ENST00000328300.10:c.4780C=	ENSP00000331902.6:p.Gln1594=
ENST00000361603.6:c.4762C=	ENSP00000354505.2:p.Gln1588=
ENST00000504541.1:c.178C=	ENSP00000424845.1:p.Gln60=
ENST00000515658.1:c.325-1417C=
NM_000495.4:c.4762C=	NP_000486.1:p.Gln1588=
NM_033380.2:c.4780C=	NP_203699.1:p.Gln1594=
XM_005262070.2:c.4771C=	XP_005262127.1:p.Gln1591=
XM_006724616.2:c.4780C=	XP_006724679.1:p.Gln1594=
XM_011530849.1:c.4456C=	XP_011529151.1:p.Gln1486=
XM_011530851.1:c.2353C=	XP_011529153.1:p.Gln785=
XM_011530849.2:c.4795C=	XP_011529151.2:p.Gln1599=
XM_017029259.2:c.4786C=	XP_016884748.1:p.Gln1596=
XM_017029260.1:c.4777C=	XP_016884749.1:p.Gln1593=
XM_017029263.2:c.3115C=	XP_016884752.1:p.Gln1039=
NM_000495.5:c.4762C=	NP_000486.1:p.Gln1588=
NM_033380.3:c.4780C= MANE Select	NP_203699.1:p.Gln1594=