Canonical Allele Identifier: CA869800897

Gene: COL4A5

Linked Data

• dbSNP Id: rs1250552360
• gnomAD v3: X-108439969-C-T
• gnomAD v4: X-108439969-C-T
• MyVariant Identifiers: chrX:g.107683199C>T (hg19) ; chrX:g.108439969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439969C>T , CM000685.2:g.108439969C>T	GRCh38
NC_000023.10:g.107683199C>T , CM000685.1:g.107683199C>T	GRCh37
NC_000023.9:g.107569855C>T	NCBI36
NG_011977.1:g.5046C>T
NG_012059.2:g.4506G>A
NG_011977.2:g.5046C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.-157C>T MANE Select	ENSP00000331902.7:n.-157C>T
ENST00000361603.7:c.-157C>T	ENSP00000354505.2:n.-157C>T
ENST00000642185.1:c.-157C>T	ENSP00000495101.1:n.-157C>T
ENST00000328300.10:c.-157C>T	ENSP00000331902.6:n.-157C>T
ENST00000361603.6:c.-157C>T	ENSP00000354505.2:n.-157C>T
ENST00000470339.1:n.28C>T
ENST00000477429.1:n.126C>T
NM_000495.4:c.-157C>T	NP_000486.1:n.-157C>T
NM_033380.2:c.-157C>T	NP_203699.1:n.-157C>T
XM_005262070.2:c.-157C>T	XP_005262127.1:n.-157C>T
XM_005262072.3:c.-157C>T	XP_005262129.1:n.-157C>T
XM_006724616.2:c.-120-37C>T	XP_006724679.1:n.-120-37C>T
XM_011530850.1:c.-157C>T	XP_011529152.1:n.-157C>T
NM_000495.5:c.-157C>T	NP_000486.1:n.-157C>T
NM_033380.3:c.-157C>T MANE Select	NP_203699.1:n.-157C>T