Canonical Allele Identifier: CA869800930

Gene: COL4A5

Linked Data

• dbSNP Id: rs1312292348
• gnomAD v3: X-108440056-T-G
• gnomAD v4: X-108440056-T-G
• MyVariant Identifiers: chrX:g.107683286T>G (hg19) ; chrX:g.108440056T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440056T>G , CM000685.2:g.108440056T>G	GRCh38
NC_000023.10:g.107683286T>G , CM000685.1:g.107683286T>G	GRCh37
NC_000023.9:g.107569942T>G	NCBI36
NG_011977.1:g.5133T>G
NG_012059.2:g.4419A>C
NG_011977.2:g.5133T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.-70T>G MANE Select	ENSP00000331902.7:n.-70T>G
ENST00000361603.7:c.-70T>G	ENSP00000354505.2:n.-70T>G
ENST00000642185.1:c.-70T>G	ENSP00000495101.1:n.-70T>G
ENST00000328300.10:c.-70T>G	ENSP00000331902.6:n.-70T>G
ENST00000361603.6:c.-70T>G	ENSP00000354505.2:n.-70T>G
ENST00000470339.1:n.115T>G
ENST00000477429.1:n.213T>G
NM_000495.4:c.-70T>G	NP_000486.1:n.-70T>G
NM_033380.2:c.-70T>G	NP_203699.1:n.-70T>G
XM_005262070.2:c.-70T>G	XP_005262127.1:n.-70T>G
XM_005262072.3:c.-70T>G	XP_005262129.1:n.-70T>G
XM_006724616.2:c.-70T>G	XP_006724679.1:n.-70T>G
XM_011530850.1:c.-70T>G	XP_011529152.1:n.-70T>G
NM_000495.5:c.-70T>G	NP_000486.1:n.-70T>G
NM_033380.3:c.-70T>G MANE Select	NP_203699.1:n.-70T>G