Canonical Allele Identifier: CA414132610

Gene: COL4A5

Linked Data

• gnomAD v4: X-108694915-C-A
• MyVariant Identifiers: chrX:g.107938145C>A (hg19) ; chrX:g.108694915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694915C>A , CM000685.2:g.108694915C>A	GRCh38
NC_000023.10:g.107938145C>A , CM000685.1:g.107938145C>A	GRCh37
NC_000023.9:g.107824801C>A	NCBI36
NG_011977.1:g.259992C>A
NG_011977.2:g.259992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4815C>A MANE Select	ENSP00000331902.7:p.Phe1605Leu
ENST00000361603.7:c.4797C>A	ENSP00000354505.2:p.Phe1599Leu
ENST00000510690.2:n.1309C>A
ENST00000644079.1:n.1301C>A
ENST00000328300.10:c.4815C>A	ENSP00000331902.6:p.Phe1605Leu
ENST00000361603.6:c.4797C>A	ENSP00000354505.2:p.Phe1599Leu
ENST00000504541.1:c.213C>A	ENSP00000424845.1:p.Phe71Leu
ENST00000515658.1:c.325-1382C>A
NM_000495.4:c.4797C>A	NP_000486.1:p.Phe1599Leu
NM_033380.2:c.4815C>A	NP_203699.1:p.Phe1605Leu
XM_005262070.2:c.4806C>A	XP_005262127.1:p.Phe1602Leu
XM_006724616.2:c.4815C>A	XP_006724679.1:p.Phe1605Leu
XM_011530849.1:c.4491C>A	XP_011529151.1:p.Phe1497Leu
XM_011530851.1:c.2388C>A	XP_011529153.1:p.Phe796Leu
XM_011530849.2:c.4830C>A	XP_011529151.2:p.Phe1610Leu
XM_017029259.2:c.4821C>A	XP_016884748.1:p.Phe1607Leu
XM_017029260.1:c.4812C>A	XP_016884749.1:p.Phe1604Leu
XM_017029263.2:c.3150C>A	XP_016884752.1:p.Phe1050Leu
NM_000495.5:c.4797C>A	NP_000486.1:p.Phe1599Leu
NM_033380.3:c.4815C>A MANE Select	NP_203699.1:p.Phe1605Leu