Canonical Allele Identifier: CA413854164

Gene: COL4A5

Linked Data

• gnomAD v4: X-108687554-C-T
• MyVariant Identifiers: chrX:g.107930784C>T (hg19) ; chrX:g.108687554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687554C>T , CM000685.2:g.108687554C>T	GRCh38
NC_000023.10:g.107930784C>T , CM000685.1:g.107930784C>T	GRCh37
NC_000023.9:g.107817440C>T	NCBI36
NG_011977.1:g.252631C>T
NG_011977.2:g.252631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4388C>T MANE Select	ENSP00000331902.7:p.Ser1463Phe
ENST00000361603.7:c.4370C>T	ENSP00000354505.2:p.Ser1457Phe
ENST00000510690.2:n.882C>T
ENST00000328300.10:c.4388C>T	ENSP00000331902.6:p.Ser1463Phe
ENST00000361603.6:c.4370C>T	ENSP00000354505.2:p.Ser1457Phe
ENST00000515658.1:c.184C>T
NM_000495.4:c.4370C>T	NP_000486.1:p.Ser1457Phe
NM_033380.2:c.4388C>T	NP_203699.1:p.Ser1463Phe
XM_005262070.2:c.4379C>T	XP_005262127.1:p.Ser1460Phe
XM_006724616.2:c.4388C>T	XP_006724679.1:p.Ser1463Phe
XM_011530849.1:c.4064C>T	XP_011529151.1:p.Ser1355Phe
XM_011530851.1:c.1961C>T	XP_011529153.1:p.Ser654Phe
XM_011530849.2:c.4403C>T	XP_011529151.2:p.Ser1468Phe
XM_017029259.2:c.4394C>T	XP_016884748.1:p.Ser1465Phe
XM_017029260.1:c.4385C>T	XP_016884749.1:p.Ser1462Phe
XM_017029263.2:c.2723C>T	XP_016884752.1:p.Ser908Phe
NM_000495.5:c.4370C>T	NP_000486.1:p.Ser1457Phe
NM_033380.3:c.4388C>T MANE Select	NP_203699.1:p.Ser1463Phe