Canonical Allele Identifier: CA10488339

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1096343
• ClinVar RCV Id: RCV001417566
• dbSNP Id: rs763257714
• ExAC: X:107683364 G / A
• gnomAD v2: X-107683364-G-A
• gnomAD v4: X-108440134-G-A
• MyVariant Identifiers: chrX:g.107683364G>A (hg19) ; chrX:g.108440134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440134G>A , CM000685.2:g.108440134G>A	GRCh38
NC_000023.10:g.107683364G>A , CM000685.1:g.107683364G>A	GRCh37
NC_000023.9:g.107570020G>A	NCBI36
NG_011977.1:g.5211G>A
NG_012059.2:g.4341C>T
NG_011977.2:g.5211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.9G>A MANE Select	ENSP00000331902.7:p.Leu3=
ENST00000361603.7:c.9G>A	ENSP00000354505.2:p.Leu3=
ENST00000642185.1:c.9G>A	ENSP00000495101.1:p.Leu3=
ENST00000328300.10:c.9G>A	ENSP00000331902.6:p.Leu3=
ENST00000361603.6:c.9G>A	ENSP00000354505.2:p.Leu3=
ENST00000470339.1:n.193G>A
ENST00000477429.1:n.291G>A
NM_000495.4:c.9G>A	NP_000486.1:p.Leu3=
NM_033380.2:c.9G>A	NP_203699.1:p.Leu3=
XM_005262070.2:c.9G>A	XP_005262127.1:p.Leu3=
XM_005262072.3:c.9G>A	XP_005262129.1:p.Leu3=
XM_006724616.2:c.9G>A	XP_006724679.1:p.Leu3=
XM_011530850.1:c.9G>A	XP_011529152.1:p.Leu3=
NM_000495.5:c.9G>A	NP_000486.1:p.Leu3=
NM_033380.3:c.9G>A MANE Select	NP_203699.1:p.Leu3=