Canonical Allele Identifier: CA517925813

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068706004
• gnomAD v4: X-108694873-T-C
• MyVariant Identifiers: chrX:g.107938103T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694873T>C , CM000685.2:g.108694873T>C	GRCh38
NC_000023.10:g.107938103T>C , CM000685.1:g.107938103T>C	GRCh37
NC_000023.9:g.107824759T>C	NCBI36
NG_011977.1:g.259950T>C
NG_011977.2:g.259950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4773T>C MANE Select	ENSP00000331902.7:p.His1591=
ENST00000361603.7:c.4755T>C	ENSP00000354505.2:p.His1585=
ENST00000510690.2:n.1267T>C
ENST00000644079.1:n.1259T>C
ENST00000328300.10:c.4773T>C	ENSP00000331902.6:p.His1591=
ENST00000361603.6:c.4755T>C	ENSP00000354505.2:p.His1585=
ENST00000504541.1:c.171T>C	ENSP00000424845.1:p.His57=
ENST00000515658.1:c.325-1424T>C
NM_000495.4:c.4755T>C	NP_000486.1:p.His1585=
NM_033380.2:c.4773T>C	NP_203699.1:p.His1591=
XM_005262070.2:c.4764T>C	XP_005262127.1:p.His1588=
XM_006724616.2:c.4773T>C	XP_006724679.1:p.His1591=
XM_011530849.1:c.4449T>C	XP_011529151.1:p.His1483=
XM_011530851.1:c.2346T>C	XP_011529153.1:p.His782=
XM_011530849.2:c.4788T>C	XP_011529151.2:p.His1596=
XM_017029259.2:c.4779T>C	XP_016884748.1:p.His1593=
XM_017029260.1:c.4770T>C	XP_016884749.1:p.His1590=
XM_017029263.2:c.3108T>C	XP_016884752.1:p.His1036=
NM_000495.5:c.4755T>C	NP_000486.1:p.His1585=
NM_033380.3:c.4773T>C MANE Select	NP_203699.1:p.His1591=