Canonical Allele Identifier: CA10489300

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1087146
• ClinVar RCV Id: RCV001405169
• dbSNP Id: rs754420396
• ExAC: X:107925077 T / C
• gnomAD v2: X-107925077-T-C
• gnomAD v4: X-108681847-T-C
• MyVariant Identifiers: chrX:g.107925077T>C (hg19) ; chrX:g.108681847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681847T>C , CM000685.2:g.108681847T>C	GRCh38
NC_000023.10:g.107925077T>C , CM000685.1:g.107925077T>C	GRCh37
NC_000023.9:g.107811733T>C	NCBI36
NG_011977.1:g.246924T>C
NG_011977.2:g.246924T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4175T>C MANE Select	ENSP00000331902.7:p.Leu1392Pro
ENST00000361603.7:c.4157T>C	ENSP00000354505.2:p.Leu1386Pro
ENST00000510690.2:n.669T>C
ENST00000328300.10:c.4175T>C	ENSP00000331902.6:p.Leu1392Pro
ENST00000361603.6:c.4157T>C	ENSP00000354505.2:p.Leu1386Pro
ENST00000489230.1:n.578T>C
NM_000495.4:c.4157T>C	NP_000486.1:p.Leu1386Pro
NM_033380.2:c.4175T>C	NP_203699.1:p.Leu1392Pro
XM_005262070.2:c.4166T>C	XP_005262127.1:p.Leu1389Pro
XM_006724616.2:c.4175T>C	XP_006724679.1:p.Leu1392Pro
XM_011530849.1:c.3851T>C	XP_011529151.1:p.Leu1284Pro
XM_011530851.1:c.1748T>C	XP_011529153.1:p.Leu583Pro
XM_011530849.2:c.4190T>C	XP_011529151.2:p.Leu1397Pro
XM_017029259.2:c.4181T>C	XP_016884748.1:p.Leu1394Pro
XM_017029260.1:c.4172T>C	XP_016884749.1:p.Leu1391Pro
XM_017029263.2:c.2510T>C	XP_016884752.1:p.Leu837Pro
NM_000495.5:c.4157T>C	NP_000486.1:p.Leu1386Pro
NM_033380.3:c.4175T>C MANE Select	NP_203699.1:p.Leu1392Pro