Canonical Allele Identifier: CA1136197353

Gene: COL4A5

Linked Data

• gnomAD v3: X-108695148-C-T
• gnomAD v4: X-108695148-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695148C>T , CM000685.2:g.108695148C>T	GRCh38
NC_000023.10:g.107938378C>T , CM000685.1:g.107938378C>T	GRCh37
NC_000023.9:g.107825034C>T	NCBI36
NG_011977.1:g.260225C>T
NG_011977.2:g.260225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4822-119C>T MANE Select	ENSP00000331902.7:n.4822-119C>T
ENST00000361603.7:c.4804-119C>T	ENSP00000354505.2:n.4804-119C>T
ENST00000510690.2:n.1316-119C>T
ENST00000644079.1:n.1534C>T
ENST00000328300.10:c.4822-119C>T	ENSP00000331902.6:n.4822-119C>T
ENST00000361603.6:c.4804-119C>T	ENSP00000354505.2:n.4804-119C>T
ENST00000504541.1:c.219+227C>T	ENSP00000424845.1:n.219+227C>T
ENST00000515658.1:c.325-1149C>T
NM_000495.4:c.4804-119C>T	NP_000486.1:n.4804-119C>T
NM_033380.2:c.4822-119C>T	NP_203699.1:n.4822-119C>T
XM_005262070.2:c.4813-119C>T	XP_005262127.1:n.4813-119C>T
XM_006724616.2:c.4822-119C>T	XP_006724679.1:n.4822-119C>T
XM_011530849.1:c.4498-119C>T	XP_011529151.1:n.4498-119C>T
XM_011530851.1:c.2395-119C>T	XP_011529153.1:n.2395-119C>T
XM_011530849.2:c.4837-119C>T	XP_011529151.2:n.4837-119C>T
XM_017029259.2:c.4828-119C>T	XP_016884748.1:n.4828-119C>T
XM_017029260.1:c.4819-119C>T	XP_016884749.1:n.4819-119C>T
XM_017029263.2:c.3157-119C>T	XP_016884752.1:n.3157-119C>T
NM_000495.5:c.4804-119C>T	NP_000486.1:n.4804-119C>T
NM_033380.3:c.4822-119C>T MANE Select	NP_203699.1:n.4822-119C>T