Canonical Allele Identifier: CA517924448

Gene: COL4A5

Linked Data

• dbSNP Id: rs1197608769
• gnomAD v2: X-107930746-T-C
• gnomAD v4: X-108687516-T-C
• MyVariant Identifiers: chrX:g.107930746T>C (hg19) ; chrX:g.108687516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687516T>C , CM000685.2:g.108687516T>C	GRCh38
NC_000023.10:g.107930746T>C , CM000685.1:g.107930746T>C	GRCh37
NC_000023.9:g.107817402T>C	NCBI36
NG_011977.1:g.252593T>C
NG_011977.2:g.252593T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4350T>C MANE Select	ENSP00000331902.7:p.Asp1450=
ENST00000361603.7:c.4332T>C	ENSP00000354505.2:p.Asp1444=
ENST00000510690.2:n.844T>C
ENST00000328300.10:c.4350T>C	ENSP00000331902.6:p.Asp1450=
ENST00000361603.6:c.4332T>C	ENSP00000354505.2:p.Asp1444=
ENST00000515658.1:c.146T>C
NM_000495.4:c.4332T>C	NP_000486.1:p.Asp1444=
NM_033380.2:c.4350T>C	NP_203699.1:p.Asp1450=
XM_005262070.2:c.4341T>C	XP_005262127.1:p.Asp1447=
XM_006724616.2:c.4350T>C	XP_006724679.1:p.Asp1450=
XM_011530849.1:c.4026T>C	XP_011529151.1:p.Asp1342=
XM_011530851.1:c.1923T>C	XP_011529153.1:p.Asp641=
XM_011530849.2:c.4365T>C	XP_011529151.2:p.Asp1455=
XM_017029259.2:c.4356T>C	XP_016884748.1:p.Asp1452=
XM_017029260.1:c.4347T>C	XP_016884749.1:p.Asp1449=
XM_017029263.2:c.2685T>C	XP_016884752.1:p.Asp895=
NM_000495.5:c.4332T>C	NP_000486.1:p.Asp1444=
NM_033380.3:c.4350T>C MANE Select	NP_203699.1:p.Asp1450=