Canonical Allele Identifier: CA414133011

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695437-C-A
• MyVariant Identifiers: chrX:g.107938667C>A (hg19) ; chrX:g.108695437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695437C>A , CM000685.2:g.108695437C>A	GRCh38
NC_000023.10:g.107938667C>A , CM000685.1:g.107938667C>A	GRCh37
NC_000023.9:g.107825323C>A	NCBI36
NG_011977.1:g.260514C>A
NG_011977.2:g.260514C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4992C>A MANE Select	ENSP00000331902.7:p.Phe1664Leu
ENST00000361603.7:c.4974C>A	ENSP00000354505.2:p.Phe1658Leu
ENST00000510690.2:n.1486C>A
ENST00000644079.1:n.1823C>A
ENST00000328300.10:c.4992C>A	ENSP00000331902.6:p.Phe1664Leu
ENST00000361603.6:c.4974C>A	ENSP00000354505.2:p.Phe1658Leu
ENST00000504541.1:c.219+516C>A	ENSP00000424845.1:n.219+516C>A
ENST00000515658.1:c.325-860C>A
NM_000495.4:c.4974C>A	NP_000486.1:p.Phe1658Leu
NM_033380.2:c.4992C>A	NP_203699.1:p.Phe1664Leu
XM_005262070.2:c.4983C>A	XP_005262127.1:p.Phe1661Leu
XM_006724616.2:c.4992C>A	XP_006724679.1:p.Phe1664Leu
XM_011530849.1:c.4668C>A	XP_011529151.1:p.Phe1556Leu
XM_011530851.1:c.2565C>A	XP_011529153.1:p.Phe855Leu
XM_011530849.2:c.5007C>A	XP_011529151.2:p.Phe1669Leu
XM_017029259.2:c.4998C>A	XP_016884748.1:p.Phe1666Leu
XM_017029260.1:c.4989C>A	XP_016884749.1:p.Phe1663Leu
XM_017029263.2:c.3327C>A	XP_016884752.1:p.Phe1109Leu
NM_000495.5:c.4974C>A	NP_000486.1:p.Phe1658Leu
NM_033380.3:c.4992C>A MANE Select	NP_203699.1:p.Phe1664Leu