Canonical Allele Identifier: CA2694438253

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439954-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439954T>G , CM000685.2:g.108439954T>G	GRCh38
NC_000023.10:g.107683184T>G , CM000685.1:g.107683184T>G	GRCh37
NC_000023.9:g.107569840T>G	NCBI36
NG_011977.1:g.5031T>G
NG_012059.2:g.4521A>C
NG_011977.2:g.5031T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-172T>G MANE Select	ENSP00000331902.7:n.-172T>G
ENST00000361603.7:c.-172T>G	ENSP00000354505.2:n.-172T>G
ENST00000642185.1:c.-172T>G	ENSP00000495101.1:n.-172T>G
ENST00000328300.10:c.-172T>G	ENSP00000331902.6:n.-172T>G
ENST00000361603.6:c.-172T>G	ENSP00000354505.2:n.-172T>G
ENST00000470339.1:n.13T>G
ENST00000477429.1:n.111T>G
NM_000495.4:c.-172T>G	NP_000486.1:n.-172T>G
NM_033380.2:c.-172T>G	NP_203699.1:n.-172T>G
XM_005262070.2:c.-172T>G	XP_005262127.1:n.-172T>G
XM_005262072.3:c.-172T>G	XP_005262129.1:n.-172T>G
XM_006724616.2:c.-120-52T>G	XP_006724679.1:n.-120-52T>G
XM_011530850.1:c.-172T>G	XP_011529152.1:n.-172T>G
NM_000495.5:c.-172T>G	NP_000486.1:n.-172T>G
NM_033380.3:c.-172T>G MANE Select	NP_203699.1:n.-172T>G