Canonical Allele Identifier: CA413853269

Gene: COL4A5

Linked Data

• dbSNP Id: rs1363580777
• gnomAD v3: X-108624266-A-G
• gnomAD v4: X-108624266-A-G
• COSMIC: COSM2736982 ; COSM4376625
• MyVariant Identifiers: chrX:g.107867496A>G (hg19) ; chrX:g.108624266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624266A>G , CM000685.2:g.108624266A>G	GRCh38
NC_000023.10:g.107867496A>G , CM000685.1:g.107867496A>G	GRCh37
NC_000023.9:g.107754152A>G	NCBI36
NG_011977.1:g.189343A>G
NG_011977.2:g.189343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2948A>G MANE Select	ENSP00000331902.7:p.Tyr983Cys
ENST00000361603.7:c.2948A>G	ENSP00000354505.2:p.Tyr983Cys
ENST00000328300.10:c.2948A>G	ENSP00000331902.6:p.Tyr983Cys
ENST00000361603.6:c.2948A>G	ENSP00000354505.2:p.Tyr983Cys
ENST00000483338.1:n.2404A>G
ENST00000505728.1:c.181A>G
NM_000495.4:c.2948A>G	NP_000486.1:p.Tyr983Cys
NM_033380.2:c.2948A>G	NP_203699.1:p.Tyr983Cys
XM_005262070.2:c.2948A>G	XP_005262127.1:p.Tyr983Cys
XM_005262072.3:c.2948A>G	XP_005262129.1:p.Tyr983Cys
XM_006724616.2:c.2948A>G	XP_006724679.1:p.Tyr983Cys
XM_011530849.1:c.2624A>G	XP_011529151.1:p.Tyr875Cys
XM_011530850.1:c.2948A>G	XP_011529152.1:p.Tyr983Cys
XM_011530851.1:c.521A>G	XP_011529153.1:p.Tyr174Cys
XM_011530849.2:c.2963A>G	XP_011529151.2:p.Tyr988Cys
XM_017029259.2:c.2963A>G	XP_016884748.1:p.Tyr988Cys
XM_017029260.1:c.2963A>G	XP_016884749.1:p.Tyr988Cys
XM_017029261.1:c.2963A>G	XP_016884750.1:p.Tyr988Cys
XM_017029262.2:c.2963A>G	XP_016884751.1:p.Tyr988Cys
XM_017029263.2:c.1283A>G	XP_016884752.1:p.Tyr428Cys
NM_000495.5:c.2948A>G	NP_000486.1:p.Tyr983Cys
NM_033380.3:c.2948A>G MANE Select	NP_203699.1:p.Tyr983Cys