Canonical Allele Identifier: CA414132470

Gene: COL4A5

Linked Data

• dbSNP Id: rs1475065917
• gnomAD v3: X-108694850-A-T
• gnomAD v4: X-108694850-A-T
• MyVariant Identifiers: chrX:g.107938080A>T (hg19) ; chrX:g.108694850A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694850A>T , CM000685.2:g.108694850A>T	GRCh38
NC_000023.10:g.107938080A>T , CM000685.1:g.107938080A>T	GRCh37
NC_000023.9:g.107824736A>T	NCBI36
NG_011977.1:g.259927A>T
NG_011977.2:g.259927A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4750A>T MANE Select	ENSP00000331902.7:p.Ser1584Cys
ENST00000361603.7:c.4732A>T	ENSP00000354505.2:p.Ser1578Cys
ENST00000510690.2:n.1244A>T
ENST00000644079.1:n.1236A>T
ENST00000328300.10:c.4750A>T	ENSP00000331902.6:p.Ser1584Cys
ENST00000361603.6:c.4732A>T	ENSP00000354505.2:p.Ser1578Cys
ENST00000504541.1:c.148A>T	ENSP00000424845.1:p.Ser50Cys
ENST00000515658.1:c.325-1447A>T
NM_000495.4:c.4732A>T	NP_000486.1:p.Ser1578Cys
NM_033380.2:c.4750A>T	NP_203699.1:p.Ser1584Cys
XM_005262070.2:c.4741A>T	XP_005262127.1:p.Ser1581Cys
XM_006724616.2:c.4750A>T	XP_006724679.1:p.Ser1584Cys
XM_011530849.1:c.4426A>T	XP_011529151.1:p.Ser1476Cys
XM_011530851.1:c.2323A>T	XP_011529153.1:p.Ser775Cys
XM_011530849.2:c.4765A>T	XP_011529151.2:p.Ser1589Cys
XM_017029259.2:c.4756A>T	XP_016884748.1:p.Ser1586Cys
XM_017029260.1:c.4747A>T	XP_016884749.1:p.Ser1583Cys
XM_017029263.2:c.3085A>T	XP_016884752.1:p.Ser1029Cys
NM_000495.5:c.4732A>T	NP_000486.1:p.Ser1578Cys
NM_033380.3:c.4750A>T MANE Select	NP_203699.1:p.Ser1584Cys