Canonical Allele Identifier: CA643751974

Gene: COL4A5

Linked Data

• dbSNP Id: rs281874668
• gnomAD v2: X-107838719-T-C
• gnomAD v4: X-108595489-T-C
• MyVariant Identifiers: chrX:g.107838719T>C (hg19) ; chrX:g.108595489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108595489T>C , CM000685.2:g.108595489T>C	GRCh38
NC_000023.10:g.107838719T>C , CM000685.1:g.107838719T>C	GRCh37
NC_000023.9:g.107725375T>C	NCBI36
NG_011977.1:g.160566T>C
NG_011977.2:g.160566T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1424-20T>C MANE Select	ENSP00000331902.7:n.1424-20T>C
ENST00000361603.7:c.1424-20T>C	ENSP00000354505.2:n.1424-20T>C
ENST00000328300.10:c.1424-20T>C	ENSP00000331902.6:n.1424-20T>C
ENST00000361603.6:c.1424-20T>C	ENSP00000354505.2:n.1424-20T>C
ENST00000483338.1:n.880-20T>C
NM_000495.4:c.1424-20T>C	NP_000486.1:n.1424-20T>C
NM_033380.2:c.1424-20T>C	NP_203699.1:n.1424-20T>C
XM_005262070.2:c.1424-20T>C	XP_005262127.1:n.1424-20T>C
XM_005262072.3:c.1424-20T>C	XP_005262129.1:n.1424-20T>C
XM_006724616.2:c.1424-20T>C	XP_006724679.1:n.1424-20T>C
XM_011530849.1:c.1100-20T>C	XP_011529151.1:n.1100-20T>C
XM_011530850.1:c.1424-20T>C	XP_011529152.1:n.1424-20T>C
XM_011530849.2:c.1439-20T>C	XP_011529151.2:n.1439-20T>C
XM_017029259.2:c.1439-20T>C	XP_016884748.1:n.1439-20T>C
XM_017029260.1:c.1439-20T>C	XP_016884749.1:n.1439-20T>C
XM_017029261.1:c.1439-20T>C	XP_016884750.1:n.1439-20T>C
XM_017029262.2:c.1439-20T>C	XP_016884751.1:n.1439-20T>C
XM_017029263.2:c.-242-20T>C	XP_016884752.1:n.-242-20T>C
NM_000495.5:c.1424-20T>C	NP_000486.1:n.1424-20T>C
NM_033380.3:c.1424-20T>C MANE Select	NP_203699.1:n.1424-20T>C