Canonical Allele Identifier: CA259071

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 24751
• ClinVar RCV Id: RCV000021630
• dbSNP Id: rs104886293
• MyVariant Identifiers: chrX:g.107936080G>C (hg19) ; chrX:g.108692850G>C (hg38)
• PubMed: PMID:1635357 ; PMID:9195222

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692850G>C , CM000685.2:g.108692850G>C	GRCh38
NC_000023.10:g.107936080G>C , CM000685.1:g.107936080G>C	GRCh37
NC_000023.9:g.107822736G>C	NCBI36
NG_011977.1:g.257927G>C
NG_011977.2:g.257927G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4631G>C MANE Select	ENSP00000331902.7:p.Trp1544Ser
ENST00000361603.7:c.4613G>C	ENSP00000354505.2:p.Trp1538Ser
ENST00000510690.2:n.1125G>C
ENST00000328300.10:c.4631G>C	ENSP00000331902.6:p.Trp1544Ser
ENST00000361603.6:c.4613G>C	ENSP00000354505.2:p.Trp1538Ser
ENST00000504541.1:c.29G>C	ENSP00000424845.1:p.Trp10Ser
ENST00000515658.1:c.325-3447G>C
NM_000495.4:c.4613G>C	NP_000486.1:p.Trp1538Ser
NM_033380.2:c.4631G>C	NP_203699.1:p.Trp1544Ser
XM_005262070.2:c.4622G>C	XP_005262127.1:p.Trp1541Ser
XM_006724616.2:c.4631G>C	XP_006724679.1:p.Trp1544Ser
XM_011530849.1:c.4307G>C	XP_011529151.1:p.Trp1436Ser
XM_011530851.1:c.2204G>C	XP_011529153.1:p.Trp735Ser
XM_011530849.2:c.4646G>C	XP_011529151.2:p.Trp1549Ser
XM_017029259.2:c.4637G>C	XP_016884748.1:p.Trp1546Ser
XM_017029260.1:c.4628G>C	XP_016884749.1:p.Trp1543Ser
XM_017029263.2:c.2966G>C	XP_016884752.1:p.Trp989Ser
NM_000495.5:c.4613G>C	NP_000486.1:p.Trp1538Ser
NM_033380.3:c.4631G>C MANE Select	NP_203699.1:p.Trp1544Ser