Canonical Allele Identifier: CA2694438211

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439920-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439920G>A , CM000685.2:g.108439920G>A	GRCh38
NC_000023.10:g.107683150G>A , CM000685.1:g.107683150G>A	GRCh37
NC_000023.9:g.107569806G>A	NCBI36
NG_011977.1:g.4997G>A
NG_012059.2:g.4555C>T
NG_011977.2:g.4997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-206G>A MANE Select	ENSP00000331902.7:n.-206G>A
ENST00000328300.10:c.-206G>A	ENSP00000331902.6:n.-206G>A
ENST00000361603.6:c.-206G>A	ENSP00000354505.2:n.-206G>A
ENST00000477429.1:n.77G>A
NM_000495.4:c.-206G>A	NP_000486.1:n.-206G>A
NM_033380.2:c.-206G>A	NP_203699.1:n.-206G>A
XM_005262070.2:c.-206G>A	XP_005262127.1:n.-206G>A
XM_005262072.3:c.-206G>A	XP_005262129.1:n.-206G>A
XM_006724616.2:c.-120-86G>A	XP_006724679.1:n.-120-86G>A
XM_011530850.1:c.-206G>A	XP_011529152.1:n.-206G>A
NM_000495.5:c.-206G>A	NP_000486.1:n.-206G>A
NM_033380.3:c.-206G>A MANE Select	NP_203699.1:n.-206G>A