Canonical Allele Identifier: CA10488707

Gene: COL4A5

Linked Data

• dbSNP Id: rs779303026
• ExAC: X:107834424 A / G
• gnomAD v2: X-107834424-A-G
• gnomAD v4: X-108591194-A-G
• MyVariant Identifiers: chrX:g.107834424A>G (hg19) ; chrX:g.108591194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108591194A>G , CM000685.2:g.108591194A>G	GRCh38
NC_000023.10:g.107834424A>G , CM000685.1:g.107834424A>G	GRCh37
NC_000023.9:g.107721080A>G	NCBI36
NG_011977.1:g.156271A>G
NG_011977.2:g.156271A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1302A>G MANE Select	ENSP00000331902.7:p.Pro434=
ENST00000361603.7:c.1302A>G	ENSP00000354505.2:p.Pro434=
ENST00000328300.10:c.1302A>G	ENSP00000331902.6:p.Pro434=
ENST00000361603.6:c.1302A>G	ENSP00000354505.2:p.Pro434=
ENST00000483338.1:n.758A>G
NM_000495.4:c.1302A>G	NP_000486.1:p.Pro434=
NM_033380.2:c.1302A>G	NP_203699.1:p.Pro434=
XM_005262070.2:c.1302A>G	XP_005262127.1:p.Pro434=
XM_005262072.3:c.1302A>G	XP_005262129.1:p.Pro434=
XM_006724616.2:c.1302A>G	XP_006724679.1:p.Pro434=
XM_011530849.1:c.978A>G	XP_011529151.1:p.Pro326=
XM_011530850.1:c.1302A>G	XP_011529152.1:p.Pro434=
XM_011530849.2:c.1317A>G	XP_011529151.2:p.Pro439=
XM_017029259.2:c.1317A>G	XP_016884748.1:p.Pro439=
XM_017029260.1:c.1317A>G	XP_016884749.1:p.Pro439=
XM_017029261.1:c.1317A>G	XP_016884750.1:p.Pro439=
XM_017029262.2:c.1317A>G	XP_016884751.1:p.Pro439=
XM_017029263.2:c.-408A>G	XP_016884752.1:n.-408A>G
NM_000495.5:c.1302A>G	NP_000486.1:p.Pro434=
NM_033380.3:c.1302A>G MANE Select	NP_203699.1:p.Pro434=