Canonical Allele Identifier: CA033428

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 10464
• ClinVar RCV Id: RCV000011210
• PubMed: PMID:7706490

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[108580713G>T;108686096C>T] , CM000685.2:g.[108580713G>T;108686096C>T]	GRCh38
NC_000023.10:g.[107823943G>T;107929326C>T] , CM000685.1:g.[107823943G>T;107929326C>T]	GRCh37
NC_000023.9:g.[107710599G>T;107815982C>T]	NCBI36
NG_011977.1:g.[145790G>T;251173C>T]
NG_011977.2:g.[145790G>T;251173C>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.[866G>T;4282C>T] MANE Select	ENSP00000331902.7:p.[Gly289Val;Arg1428Cys...
ENST00000361603.7:c.[866G>T;4264C>T]	ENSP00000354505.2:p.[Gly289Val;Arg1422Cys...
ENST00000328300.10:c.[866G>T;4282C>T]	ENSP00000331902.6:p.[Gly289Val;Arg1428Cys...
ENST00000361603.6:c.[866G>T;4264C>T]	ENSP00000354505.2:p.[Gly289Val;Arg1422Cys...
NM_000495.4:c.[866G>T;4264C>T]	NP_000486.1:p.[Gly289Val;Arg1422Cys]
NM_033380.2:c.[866G>T;4282C>T]	NP_203699.1:p.[Gly289Val;Arg1428Cys]
XM_005262070.2:c.[866G>T;4273C>T]	XP_005262127.1:p.[Gly289Val;Arg1425Cys]
XM_006724616.2:c.[866G>T;4282C>T]	XP_006724679.1:p.[Gly289Val;Arg1428Cys]
XM_011530849.1:c.[542G>T;3958C>T]	XP_011529151.1:p.[Gly181Val;Arg1320Cys]
XM_011530849.2:c.[881G>T;4297C>T]	XP_011529151.2:p.[Gly294Val;Arg1433Cys]
XM_017029259.2:c.[881G>T;4288C>T]	XP_016884748.1:p.[Gly294Val;Arg1430Cys]
XM_017029260.1:c.[881G>T;4279C>T]	XP_016884749.1:p.[Gly294Val;Arg1427Cys]
NM_000495.5:c.[866G>T;4264C>T]	NP_000486.1:p.[Gly289Val;Arg1422Cys]
NM_033380.3:c.[866G>T;4282C>T] MANE Select	NP_203699.1:p.[Gly289Val;Arg1428Cys]