Canonical Allele Identifier: CA10489450

Gene: COL4A5

Linked Data

• dbSNP Id: rs756173765
• ExAC: X:107938692 T / C
• gnomAD v2: X-107938692-T-C
• gnomAD v4: X-108695462-T-C
• MyVariant Identifiers: chrX:g.107938692T>C (hg19) ; chrX:g.108695462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695462T>C , CM000685.2:g.108695462T>C	GRCh38
NC_000023.10:g.107938692T>C , CM000685.1:g.107938692T>C	GRCh37
NC_000023.9:g.107825348T>C	NCBI36
NG_011977.1:g.260539T>C
NG_011977.2:g.260539T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4994+23T>C MANE Select	ENSP00000331902.7:n.4994+23T>C
ENST00000361603.7:c.4976+23T>C	ENSP00000354505.2:n.4976+23T>C
ENST00000510690.2:n.1488+23T>C
ENST00000644079.1:n.1848T>C
ENST00000328300.10:c.4994+23T>C	ENSP00000331902.6:n.4994+23T>C
ENST00000361603.6:c.4976+23T>C	ENSP00000354505.2:n.4976+23T>C
ENST00000504541.1:c.219+541T>C	ENSP00000424845.1:n.219+541T>C
ENST00000515658.1:c.325-835T>C
NM_000495.4:c.4976+23T>C	NP_000486.1:n.4976+23T>C
NM_033380.2:c.4994+23T>C	NP_203699.1:n.4994+23T>C
XM_005262070.2:c.4985+23T>C	XP_005262127.1:n.4985+23T>C
XM_006724616.2:c.4994+23T>C	XP_006724679.1:n.4994+23T>C
XM_011530849.1:c.4670+23T>C	XP_011529151.1:n.4670+23T>C
XM_011530851.1:c.2567+23T>C	XP_011529153.1:n.2567+23T>C
XM_011530849.2:c.5009+23T>C	XP_011529151.2:n.5009+23T>C
XM_017029259.2:c.5000+23T>C	XP_016884748.1:n.5000+23T>C
XM_017029260.1:c.4991+23T>C	XP_016884749.1:n.4991+23T>C
XM_017029263.2:c.3329+23T>C	XP_016884752.1:n.3329+23T>C
NM_000495.5:c.4976+23T>C	NP_000486.1:n.4976+23T>C
NM_033380.3:c.4994+23T>C MANE Select	NP_203699.1:n.4994+23T>C