Canonical Allele Identifier: CA334063115

Gene: COL4A5

Linked Data

• dbSNP Id: rs754669911
• gnomAD v4: X-108695013-A-G
• MyVariant Identifiers: chrX:g.107938243A>G (hg19) ; chrX:g.108695013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695013A>G , CM000685.2:g.108695013A>G	GRCh38
NC_000023.10:g.107938243A>G , CM000685.1:g.107938243A>G	GRCh37
NC_000023.9:g.107824899A>G	NCBI36
NG_011977.1:g.260090A>G
NG_011977.2:g.260090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4821+92A>G MANE Select	ENSP00000331902.7:n.4821+92A>G
ENST00000361603.7:c.4803+92A>G	ENSP00000354505.2:n.4803+92A>G
ENST00000510690.2:n.1315+92A>G
ENST00000644079.1:n.1399A>G
ENST00000328300.10:c.4821+92A>G	ENSP00000331902.6:n.4821+92A>G
ENST00000361603.6:c.4803+92A>G	ENSP00000354505.2:n.4803+92A>G
ENST00000504541.1:c.219+92A>G	ENSP00000424845.1:n.219+92A>G
ENST00000515658.1:c.325-1284A>G
NM_000495.4:c.4803+92A>G	NP_000486.1:n.4803+92A>G
NM_033380.2:c.4821+92A>G	NP_203699.1:n.4821+92A>G
XM_005262070.2:c.4812+92A>G	XP_005262127.1:n.4812+92A>G
XM_006724616.2:c.4821+92A>G	XP_006724679.1:n.4821+92A>G
XM_011530849.1:c.4497+92A>G	XP_011529151.1:n.4497+92A>G
XM_011530851.1:c.2394+92A>G	XP_011529153.1:n.2394+92A>G
XM_011530849.2:c.4836+92A>G	XP_011529151.2:n.4836+92A>G
XM_017029259.2:c.4827+92A>G	XP_016884748.1:n.4827+92A>G
XM_017029260.1:c.4818+92A>G	XP_016884749.1:n.4818+92A>G
XM_017029263.2:c.3156+92A>G	XP_016884752.1:n.3156+92A>G
NM_000495.5:c.4803+92A>G	NP_000486.1:n.4803+92A>G
NM_033380.3:c.4821+92A>G MANE Select	NP_203699.1:n.4821+92A>G