Canonical Allele Identifier: CA517924088

Gene: COL4A5

Linked Data

• dbSNP Id: rs1413325023
• gnomAD v2: X-107929295-T-C
• gnomAD v4: X-108686065-T-C
• MyVariant Identifiers: chrX:g.107929295T>C (hg19) ; chrX:g.108686065T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686065T>C , CM000685.2:g.108686065T>C	GRCh38
NC_000023.10:g.107929295T>C , CM000685.1:g.107929295T>C	GRCh37
NC_000023.9:g.107815951T>C	NCBI36
NG_011977.1:g.251142T>C
NG_011977.2:g.251142T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4251T>C MANE Select	ENSP00000331902.7:p.Asn1417=
ENST00000361603.7:c.4233T>C	ENSP00000354505.2:p.Asn1411=
ENST00000510690.2:n.745T>C
ENST00000328300.10:c.4251T>C	ENSP00000331902.6:p.Asn1417=
ENST00000361603.6:c.4233T>C	ENSP00000354505.2:p.Asn1411=
ENST00000489230.1:n.654T>C
ENST00000515658.1:c.47T>C
NM_000495.4:c.4233T>C	NP_000486.1:p.Asn1411=
NM_033380.2:c.4251T>C	NP_203699.1:p.Asn1417=
XM_005262070.2:c.4242T>C	XP_005262127.1:p.Asn1414=
XM_006724616.2:c.4251T>C	XP_006724679.1:p.Asn1417=
XM_011530849.1:c.3927T>C	XP_011529151.1:p.Asn1309=
XM_011530851.1:c.1824T>C	XP_011529153.1:p.Asn608=
XM_011530849.2:c.4266T>C	XP_011529151.2:p.Asn1422=
XM_017029259.2:c.4257T>C	XP_016884748.1:p.Asn1419=
XM_017029260.1:c.4248T>C	XP_016884749.1:p.Asn1416=
XM_017029263.2:c.2586T>C	XP_016884752.1:p.Asn862=
NM_000495.5:c.4233T>C	NP_000486.1:p.Asn1411=
NM_033380.3:c.4251T>C MANE Select	NP_203699.1:p.Asn1417=