Canonical Allele Identifier: CA517922940

Gene: COL4A5

Linked Data

• gnomAD v4: X-108603049-T-C
• MyVariant Identifiers: chrX:g.107846279T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108603049T>C , CM000685.2:g.108603049T>C	GRCh38
NC_000023.10:g.107846279T>C , CM000685.1:g.107846279T>C	GRCh37
NC_000023.9:g.107732935T>C	NCBI36
NG_011977.1:g.168126T>C
NG_011977.2:g.168126T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2232T>C MANE Select	ENSP00000331902.7:p.Phe744=
ENST00000361603.7:c.2232T>C	ENSP00000354505.2:p.Phe744=
ENST00000328300.10:c.2232T>C	ENSP00000331902.6:p.Phe744=
ENST00000361603.6:c.2232T>C	ENSP00000354505.2:p.Phe744=
ENST00000483338.1:n.1688T>C
NM_000495.4:c.2232T>C	NP_000486.1:p.Phe744=
NM_033380.2:c.2232T>C	NP_203699.1:p.Phe744=
XM_005262070.2:c.2232T>C	XP_005262127.1:p.Phe744=
XM_005262072.3:c.2232T>C	XP_005262129.1:p.Phe744=
XM_006724616.2:c.2232T>C	XP_006724679.1:p.Phe744=
XM_011530849.1:c.1908T>C	XP_011529151.1:p.Phe636=
XM_011530850.1:c.2232T>C	XP_011529152.1:p.Phe744=
XM_011530851.1:c.-45T>C	XP_011529153.1:n.-45T>C
XM_011530849.2:c.2247T>C	XP_011529151.2:p.Phe749=
XM_017029259.2:c.2247T>C	XP_016884748.1:p.Phe749=
XM_017029260.1:c.2247T>C	XP_016884749.1:p.Phe749=
XM_017029261.1:c.2247T>C	XP_016884750.1:p.Phe749=
XM_017029262.2:c.2247T>C	XP_016884751.1:p.Phe749=
XM_017029263.2:c.567T>C	XP_016884752.1:p.Phe189=
NM_000495.5:c.2232T>C	NP_000486.1:p.Phe744=
NM_033380.3:c.2232T>C MANE Select	NP_203699.1:p.Phe744=