Canonical Allele Identifier: CA414133039

Gene: COL4A5

Linked Data

• dbSNP Id: rs1242139378
• gnomAD v2: X-107939531-C-A
• gnomAD v4: X-108696301-C-A
• MyVariant Identifiers: chrX:g.107939531C>A (hg19) ; chrX:g.108696301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696301C>A , CM000685.2:g.108696301C>A	GRCh38
NC_000023.10:g.107939531C>A , CM000685.1:g.107939531C>A	GRCh37
NC_000023.9:g.107826187C>A	NCBI36
NG_011977.1:g.261378C>A
NG_011977.2:g.261378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4999C>A MANE Select	ENSP00000331902.7:p.Pro1667Thr
ENST00000361603.7:c.4981C>A	ENSP00000354505.2:p.Pro1661Thr
ENST00000510690.2:n.1493C>A
ENST00000644079.1:n.2687C>A
ENST00000328300.10:c.4999C>A	ENSP00000331902.6:p.Pro1667Thr
ENST00000361603.6:c.4981C>A	ENSP00000354505.2:p.Pro1661Thr
ENST00000504541.1:c.224C>A	ENSP00000424845.1:n.224C>A
ENST00000515658.1:c.329C>A
NM_000495.4:c.4981C>A	NP_000486.1:p.Pro1661Thr
NM_033380.2:c.4999C>A	NP_203699.1:p.Pro1667Thr
XM_005262070.2:c.4990C>A	XP_005262127.1:p.Pro1664Thr
XM_006724616.2:c.4999C>A	XP_006724679.1:p.Pro1667Thr
XM_011530849.1:c.4675C>A	XP_011529151.1:p.Pro1559Thr
XM_011530851.1:c.2572C>A	XP_011529153.1:p.Pro858Thr
XM_011530849.2:c.5014C>A	XP_011529151.2:p.Pro1672Thr
XM_017029259.2:c.5005C>A	XP_016884748.1:p.Pro1669Thr
XM_017029260.1:c.4996C>A	XP_016884749.1:p.Pro1666Thr
XM_017029263.2:c.3334C>A	XP_016884752.1:p.Pro1112Thr
NM_000495.5:c.4981C>A	NP_000486.1:p.Pro1661Thr
NM_033380.3:c.4999C>A MANE Select	NP_203699.1:p.Pro1667Thr