Canonical Allele Identifier: CA2694438379

Gene: COL4A5

Linked Data

• gnomAD v4: X-108440116-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440116C>A , CM000685.2:g.108440116C>A	GRCh38
NC_000023.10:g.107683346C>A , CM000685.1:g.107683346C>A	GRCh37
NC_000023.9:g.107570002C>A	NCBI36
NG_011977.1:g.5193C>A
NG_012059.2:g.4359G>T
NG_011977.2:g.5193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-10C>A MANE Select	ENSP00000331902.7:n.-10C>A
ENST00000361603.7:c.-10C>A	ENSP00000354505.2:n.-10C>A
ENST00000642185.1:c.-10C>A	ENSP00000495101.1:n.-10C>A
ENST00000328300.10:c.-10C>A	ENSP00000331902.6:n.-10C>A
ENST00000361603.6:c.-10C>A	ENSP00000354505.2:n.-10C>A
ENST00000470339.1:n.175C>A
ENST00000477429.1:n.273C>A
NM_000495.4:c.-10C>A	NP_000486.1:n.-10C>A
NM_033380.2:c.-10C>A	NP_203699.1:n.-10C>A
XM_005262070.2:c.-10C>A	XP_005262127.1:n.-10C>A
XM_005262072.3:c.-10C>A	XP_005262129.1:n.-10C>A
XM_006724616.2:c.-10C>A	XP_006724679.1:n.-10C>A
XM_011530850.1:c.-10C>A	XP_011529152.1:n.-10C>A
NM_000495.5:c.-10C>A	NP_000486.1:n.-10C>A
NM_033380.3:c.-10C>A MANE Select	NP_203699.1:n.-10C>A