Canonical Allele Identifier: CA2450718764

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686071C= , CM000685.2:g.108686071C=	GRCh38
NC_000023.10:g.107929301C= , CM000685.1:g.107929301C=	GRCh37
NC_000023.9:g.107815957C=	NCBI36
NG_011977.1:g.251148C=
NG_011977.2:g.251148C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4257C= MANE Select	ENSP00000331902.7:p.Leu1419=
ENST00000361603.7:c.4239C=	ENSP00000354505.2:p.Leu1413=
ENST00000510690.2:n.751C=
ENST00000328300.10:c.4257C=	ENSP00000331902.6:p.Leu1419=
ENST00000361603.6:c.4239C=	ENSP00000354505.2:p.Leu1413=
ENST00000489230.1:n.660C=
ENST00000515658.1:c.53C=
NM_000495.4:c.4239C=	NP_000486.1:p.Leu1413=
NM_033380.2:c.4257C=	NP_203699.1:p.Leu1419=
XM_005262070.2:c.4248C=	XP_005262127.1:p.Leu1416=
XM_006724616.2:c.4257C=	XP_006724679.1:p.Leu1419=
XM_011530849.1:c.3933C=	XP_011529151.1:p.Leu1311=
XM_011530851.1:c.1830C=	XP_011529153.1:p.Leu610=
XM_011530849.2:c.4272C=	XP_011529151.2:p.Leu1424=
XM_017029259.2:c.4263C=	XP_016884748.1:p.Leu1421=
XM_017029260.1:c.4254C=	XP_016884749.1:p.Leu1418=
XM_017029263.2:c.2592C=	XP_016884752.1:p.Leu864=
NM_000495.5:c.4239C=	NP_000486.1:p.Leu1413=
NM_033380.3:c.4257C= MANE Select	NP_203699.1:p.Leu1419=