Canonical Allele Identifier: CA643744420

Gene: COL4A5

Linked Data

• dbSNP Id: rs1251172426
• gnomAD v2: X-107683182-C-A
• gnomAD v4: X-108439952-C-A
• MyVariant Identifiers: chrX:g.107683182C>A (hg19) ; chrX:g.108439952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439952C>A , CM000685.2:g.108439952C>A	GRCh38
NC_000023.10:g.107683182C>A , CM000685.1:g.107683182C>A	GRCh37
NC_000023.9:g.107569838C>A	NCBI36
NG_011977.1:g.5029C>A
NG_012059.2:g.4523G>T
NG_011977.2:g.5029C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.-174C>A MANE Select	ENSP00000331902.7:n.-174C>A
ENST00000361603.7:c.-174C>A	ENSP00000354505.2:n.-174C>A
ENST00000642185.1:c.-174C>A	ENSP00000495101.1:n.-174C>A
ENST00000328300.10:c.-174C>A	ENSP00000331902.6:n.-174C>A
ENST00000361603.6:c.-174C>A	ENSP00000354505.2:n.-174C>A
ENST00000470339.1:n.11C>A
ENST00000477429.1:n.109C>A
NM_000495.4:c.-174C>A	NP_000486.1:n.-174C>A
NM_033380.2:c.-174C>A	NP_203699.1:n.-174C>A
XM_005262070.2:c.-174C>A	XP_005262127.1:n.-174C>A
XM_005262072.3:c.-174C>A	XP_005262129.1:n.-174C>A
XM_006724616.2:c.-120-54C>A	XP_006724679.1:n.-120-54C>A
XM_011530850.1:c.-174C>A	XP_011529152.1:n.-174C>A
NM_000495.5:c.-174C>A	NP_000486.1:n.-174C>A
NM_033380.3:c.-174C>A MANE Select	NP_203699.1:n.-174C>A