Canonical Allele Identifier: CA2450683901

Gene: COL4A5

Linked Data

• dbSNP Id: rs2066278263

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108583182C>T , CM000685.2:g.108583182C>T	GRCh38
NC_000023.10:g.107826412C>T , CM000685.1:g.107826412C>T	GRCh37
NC_000023.9:g.107713068C>T	NCBI36
NG_011977.1:g.148259C>T
NG_011977.2:g.148259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.990+245C>T MANE Select	ENSP00000331902.7:n.990+245C>T
ENST00000361603.7:c.990+245C>T	ENSP00000354505.2:n.990+245C>T
ENST00000328300.10:c.990+245C>T	ENSP00000331902.6:n.990+245C>T
ENST00000361603.6:c.990+245C>T	ENSP00000354505.2:n.990+245C>T
ENST00000483338.1:n.446+245C>T
NM_000495.4:c.990+245C>T	NP_000486.1:n.990+245C>T
NM_033380.2:c.990+245C>T	NP_203699.1:n.990+245C>T
XM_005262070.2:c.990+245C>T	XP_005262127.1:n.990+245C>T
XM_005262072.3:c.990+245C>T	XP_005262129.1:n.990+245C>T
XM_006724616.2:c.990+245C>T	XP_006724679.1:n.990+245C>T
XM_011530849.1:c.666+245C>T	XP_011529151.1:n.666+245C>T
XM_011530850.1:c.990+245C>T	XP_011529152.1:n.990+245C>T
XM_011530849.2:c.1005+245C>T	XP_011529151.2:n.1005+245C>T
XM_017029259.2:c.1005+245C>T	XP_016884748.1:n.1005+245C>T
XM_017029260.1:c.1005+245C>T	XP_016884749.1:n.1005+245C>T
XM_017029261.1:c.1005+245C>T	XP_016884750.1:n.1005+245C>T
XM_017029262.2:c.1005+245C>T	XP_016884751.1:n.1005+245C>T
XM_017029263.2:c.-720+245C>T	XP_016884752.1:n.-720+245C>T
NM_000495.5:c.990+245C>T	NP_000486.1:n.990+245C>T
NM_033380.3:c.990+245C>T MANE Select	NP_203699.1:n.990+245C>T