Canonical Allele Identifier: CA414132784

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695335-T-G
• MyVariant Identifiers: chrX:g.107938565T>G (hg19) ; chrX:g.108695335T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695335T>G , CM000685.2:g.108695335T>G	GRCh38
NC_000023.10:g.107938565T>G , CM000685.1:g.107938565T>G	GRCh37
NC_000023.9:g.107825221T>G	NCBI36
NG_011977.1:g.260412T>G
NG_011977.2:g.260412T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4890T>G MANE Select	ENSP00000331902.7:p.Phe1630Leu
ENST00000361603.7:c.4872T>G	ENSP00000354505.2:p.Phe1624Leu
ENST00000510690.2:n.1384T>G
ENST00000644079.1:n.1721T>G
ENST00000328300.10:c.4890T>G	ENSP00000331902.6:p.Phe1630Leu
ENST00000361603.6:c.4872T>G	ENSP00000354505.2:p.Phe1624Leu
ENST00000504541.1:c.219+414T>G	ENSP00000424845.1:n.219+414T>G
ENST00000515658.1:c.325-962T>G
NM_000495.4:c.4872T>G	NP_000486.1:p.Phe1624Leu
NM_033380.2:c.4890T>G	NP_203699.1:p.Phe1630Leu
XM_005262070.2:c.4881T>G	XP_005262127.1:p.Phe1627Leu
XM_006724616.2:c.4890T>G	XP_006724679.1:p.Phe1630Leu
XM_011530849.1:c.4566T>G	XP_011529151.1:p.Phe1522Leu
XM_011530851.1:c.2463T>G	XP_011529153.1:p.Phe821Leu
XM_011530849.2:c.4905T>G	XP_011529151.2:p.Phe1635Leu
XM_017029259.2:c.4896T>G	XP_016884748.1:p.Phe1632Leu
XM_017029260.1:c.4887T>G	XP_016884749.1:p.Phe1629Leu
XM_017029263.2:c.3225T>G	XP_016884752.1:p.Phe1075Leu
NM_000495.5:c.4872T>G	NP_000486.1:p.Phe1624Leu
NM_033380.3:c.4890T>G MANE Select	NP_203699.1:p.Phe1630Leu