Canonical Allele Identifier: CA517923341

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2776638
• ClinVar RCV Id: RCV003664818
• MyVariant Identifiers: chrX:g.107920797T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677567T>C , CM000685.2:g.108677567T>C	GRCh38
NC_000023.10:g.107920797T>C , CM000685.1:g.107920797T>C	GRCh37
NC_000023.9:g.107807453T>C	NCBI36
NG_011977.1:g.242644T>C
NG_011977.2:g.242644T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3876T>C MANE Select	ENSP00000331902.7:p.Asn1292=
ENST00000361603.7:c.3858T>C	ENSP00000354505.2:p.Asn1286=
ENST00000510690.2:n.370T>C
ENST00000328300.10:c.3876T>C	ENSP00000331902.6:p.Asn1292=
ENST00000361603.6:c.3858T>C	ENSP00000354505.2:p.Asn1286=
ENST00000489230.1:n.279T>C
ENST00000510690.1:n.370T>C
NM_000495.4:c.3858T>C	NP_000486.1:p.Asn1286=
NM_033380.2:c.3876T>C	NP_203699.1:p.Asn1292=
XM_005262070.2:c.3867T>C	XP_005262127.1:p.Asn1289=
XM_006724616.2:c.3876T>C	XP_006724679.1:p.Asn1292=
XM_011530849.1:c.3552T>C	XP_011529151.1:p.Asn1184=
XM_011530851.1:c.1449T>C	XP_011529153.1:p.Asn483=
XM_011530849.2:c.3891T>C	XP_011529151.2:p.Asn1297=
XM_017029259.2:c.3882T>C	XP_016884748.1:p.Asn1294=
XM_017029260.1:c.3873T>C	XP_016884749.1:p.Asn1291=
XM_017029261.1:c.3891T>C	XP_016884750.1:p.Asn1297=
XM_017029263.2:c.2211T>C	XP_016884752.1:p.Asn737=
NM_000495.5:c.3858T>C	NP_000486.1:p.Asn1286=
NM_033380.3:c.3876T>C MANE Select	NP_203699.1:p.Asn1292=