Canonical Allele Identifier: CA517991410

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1652306
• ClinVar RCV Id: RCV002156073
• dbSNP Id: rs2147734784
• gnomAD v4: X-108563884-T-C
• MyVariant Identifiers: chrX:g.107807114T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108563884T>C , CM000685.2:g.108563884T>C	GRCh38
NC_000023.10:g.107807114T>C , CM000685.1:g.107807114T>C	GRCh37
NC_000023.9:g.107693770T>C	NCBI36
NG_011977.1:g.128961T>C
NG_011977.2:g.128961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.234T>C MANE Select	ENSP00000331902.7:p.Gly78=
ENST00000361603.7:c.234T>C	ENSP00000354505.2:p.Gly78=
ENST00000328300.10:c.234T>C	ENSP00000331902.6:p.Gly78=
ENST00000361603.6:c.234T>C	ENSP00000354505.2:p.Gly78=
ENST00000470339.1:n.418T>C
NM_000495.4:c.234T>C	NP_000486.1:p.Gly78=
NM_033380.2:c.234T>C	NP_203699.1:p.Gly78=
XM_005262070.2:c.234T>C	XP_005262127.1:p.Gly78=
XM_005262072.3:c.234T>C	XP_005262129.1:p.Gly78=
XM_006724616.2:c.234T>C	XP_006724679.1:p.Gly78=
XM_011530849.1:c.-91T>C	XP_011529151.1:n.-91T>C
XM_011530850.1:c.234T>C	XP_011529152.1:p.Gly78=
XM_011530849.2:c.249T>C	XP_011529151.2:p.Gly83=
XM_017029259.2:c.249T>C	XP_016884748.1:p.Gly83=
XM_017029260.1:c.249T>C	XP_016884749.1:p.Gly83=
XM_017029261.1:c.249T>C	XP_016884750.1:p.Gly83=
XM_017029262.2:c.249T>C	XP_016884751.1:p.Gly83=
NM_000495.5:c.234T>C	NP_000486.1:p.Gly78=
NM_033380.3:c.234T>C MANE Select	NP_203699.1:p.Gly78=