Canonical Allele Identifier: CA334052658

Gene: COL4A5

Linked Data

• dbSNP Id: rs867632571
• MyVariant Identifiers: chrX:g.107869556C>T (hg19) ; chrX:g.108626326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108626326C>T , CM000685.2:g.108626326C>T	GRCh38
NC_000023.10:g.107869556C>T , CM000685.1:g.107869556C>T	GRCh37
NC_000023.9:g.107756212C>T	NCBI36
NG_011977.1:g.191403C>T
NG_011977.2:g.191403C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3223C>T MANE Select	ENSP00000331902.7:p.Leu1075Phe
ENST00000361603.7:c.3223C>T	ENSP00000354505.2:p.Leu1075Phe
ENST00000328300.10:c.3223C>T	ENSP00000331902.6:p.Leu1075Phe
ENST00000361603.6:c.3223C>T	ENSP00000354505.2:p.Leu1075Phe
ENST00000483338.1:n.2679C>T
ENST00000505728.1:c.456C>T
NM_000495.4:c.3223C>T	NP_000486.1:p.Leu1075Phe
NM_033380.2:c.3223C>T	NP_203699.1:p.Leu1075Phe
XM_005262070.2:c.3223C>T	XP_005262127.1:p.Leu1075Phe
XM_005262072.3:c.3223C>T	XP_005262129.1:p.Leu1075Phe
XM_006724616.2:c.3223C>T	XP_006724679.1:p.Leu1075Phe
XM_011530849.1:c.2899C>T	XP_011529151.1:p.Leu967Phe
XM_011530850.1:c.3223C>T	XP_011529152.1:p.Leu1075Phe
XM_011530851.1:c.796C>T	XP_011529153.1:p.Leu266Phe
XM_011530849.2:c.3238C>T	XP_011529151.2:p.Leu1080Phe
XM_017029259.2:c.3238C>T	XP_016884748.1:p.Leu1080Phe
XM_017029260.1:c.3238C>T	XP_016884749.1:p.Leu1080Phe
XM_017029261.1:c.3238C>T	XP_016884750.1:p.Leu1080Phe
XM_017029262.2:c.3238C>T	XP_016884751.1:p.Leu1080Phe
XM_017029263.2:c.1558C>T	XP_016884752.1:p.Leu520Phe
NM_000495.5:c.3223C>T	NP_000486.1:p.Leu1075Phe
NM_033380.3:c.3223C>T MANE Select	NP_203699.1:p.Leu1075Phe