Canonical Allele Identifier: CA2694438193

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439892-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439892A>G , CM000685.2:g.108439892A>G	GRCh38
NC_000023.10:g.107683122A>G , CM000685.1:g.107683122A>G	GRCh37
NC_000023.9:g.107569778A>G	NCBI36
NG_011977.1:g.4969A>G
NG_012059.2:g.4583T>C
NG_011977.2:g.4969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-234A>G MANE Select	ENSP00000331902.7:n.-234A>G
ENST00000328300.10:c.-234A>G	ENSP00000331902.6:n.-234A>G
ENST00000361603.6:c.-234A>G	ENSP00000354505.2:n.-234A>G
ENST00000477429.1:n.49A>G
NM_000495.4:c.-234A>G	NP_000486.1:n.-234A>G
NM_033380.2:c.-234A>G	NP_203699.1:n.-234A>G
XM_005262070.2:c.-234A>G	XP_005262127.1:n.-234A>G
XM_005262072.3:c.-234A>G	XP_005262129.1:n.-234A>G
XM_006724616.2:c.-121+97A>G	XP_006724679.1:n.-121+97A>G
XM_011530850.1:c.-234A>G	XP_011529152.1:n.-234A>G
NM_000495.5:c.-234A>G	NP_000486.1:n.-234A>G
NM_033380.3:c.-234A>G MANE Select	NP_203699.1:n.-234A>G