Canonical Allele Identifier: CA2694438195

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439896-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439896C>A , CM000685.2:g.108439896C>A	GRCh38
NC_000023.10:g.107683126C>A , CM000685.1:g.107683126C>A	GRCh37
NC_000023.9:g.107569782C>A	NCBI36
NG_011977.1:g.4973C>A
NG_012059.2:g.4579G>T
NG_011977.2:g.4973C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-230C>A MANE Select	ENSP00000331902.7:n.-230C>A
ENST00000328300.10:c.-230C>A	ENSP00000331902.6:n.-230C>A
ENST00000361603.6:c.-230C>A	ENSP00000354505.2:n.-230C>A
ENST00000477429.1:n.53C>A
NM_000495.4:c.-230C>A	NP_000486.1:n.-230C>A
NM_033380.2:c.-230C>A	NP_203699.1:n.-230C>A
XM_005262070.2:c.-230C>A	XP_005262127.1:n.-230C>A
XM_005262072.3:c.-230C>A	XP_005262129.1:n.-230C>A
XM_006724616.2:c.-121+101C>A	XP_006724679.1:n.-121+101C>A
XM_011530850.1:c.-230C>A	XP_011529152.1:n.-230C>A
NM_000495.5:c.-230C>A	NP_000486.1:n.-230C>A
NM_033380.3:c.-230C>A MANE Select	NP_203699.1:n.-230C>A