Canonical Allele Identifier: CA413855427

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692800C>G , CM000685.2:g.108692800C>G	GRCh38
NC_000023.10:g.107936030C>G , CM000685.1:g.107936030C>G	GRCh37
NC_000023.9:g.107822686C>G	NCBI36
NG_011977.1:g.257877C>G
NG_011977.2:g.257877C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4581C>G MANE Select	NP_203699.1:p.Cys1527Trp
ENST00000328300.11:c.4581C>G MANE Select	ENSP00000331902.7:p.Cys1527Trp
NM_000495.4:c.4563C>G	NP_000486.1:p.Cys1521Trp
NM_000495.5:c.4563C>G	NP_000486.1:p.Cys1521Trp
NM_033380.2:c.4581C>G	NP_203699.1:p.Cys1527Trp
ENST00000328300.10:c.4581C>G	ENSP00000331902.6:p.Cys1527Trp
ENST00000361603.6:c.4563C>G	ENSP00000354505.2:p.Cys1521Trp
ENST00000361603.7:c.4563C>G	ENSP00000354505.2:p.Cys1521Trp
ENST00000510690.2:n.1075C>G
ENST00000515658.1:c.325-3497C>G
XM_005262070.2:c.4572C>G	XP_005262127.1:p.Cys1524Trp
XM_006724616.2:c.4581C>G	XP_006724679.1:p.Cys1527Trp
XM_011530849.1:c.4257C>G	XP_011529151.1:p.Cys1419Trp
XM_011530849.2:c.4596C>G	XP_011529151.2:p.Cys1532Trp
XM_011530851.1:c.2154C>G	XP_011529153.1:p.Cys718Trp
XM_017029259.2:c.4587C>G	XP_016884748.1:p.Cys1529Trp
XM_017029260.1:c.4578C>G	XP_016884749.1:p.Cys1526Trp
XM_017029263.2:c.2916C>G	XP_016884752.1:p.Cys972Trp