Canonical Allele Identifier: CA517989387

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2994268
• ClinVar RCV Id: RCV003855907
• MyVariant Identifiers: chrX:g.107683389T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440159T>C , CM000685.2:g.108440159T>C	GRCh38
NC_000023.10:g.107683389T>C , CM000685.1:g.107683389T>C	GRCh37
NC_000023.9:g.107570045T>C	NCBI36
NG_011977.1:g.5236T>C
NG_012059.2:g.4316A>G
NG_011977.2:g.5236T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.34T>C MANE Select	ENSP00000331902.7:p.Leu12=
ENST00000361603.7:c.34T>C	ENSP00000354505.2:p.Leu12=
ENST00000642185.1:c.34T>C	ENSP00000495101.1:p.Leu12=
ENST00000328300.10:c.34T>C	ENSP00000331902.6:p.Leu12=
ENST00000361603.6:c.34T>C	ENSP00000354505.2:p.Leu12=
ENST00000470339.1:n.218T>C
ENST00000477429.1:n.316T>C
NM_000495.4:c.34T>C	NP_000486.1:p.Leu12=
NM_033380.2:c.34T>C	NP_203699.1:p.Leu12=
XM_005262070.2:c.34T>C	XP_005262127.1:p.Leu12=
XM_005262072.3:c.34T>C	XP_005262129.1:p.Leu12=
XM_006724616.2:c.34T>C	XP_006724679.1:p.Leu12=
XM_011530850.1:c.34T>C	XP_011529152.1:p.Leu12=
NM_000495.5:c.34T>C	NP_000486.1:p.Leu12=
NM_033380.3:c.34T>C MANE Select	NP_203699.1:p.Leu12=