Canonical Allele Identifier: CA1136174677

Gene: COL4A5

Linked Data

• dbSNP Id: rs2065930543
• gnomAD v3: X-108563771-C-T
• gnomAD v4: X-108563771-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108563771C>T , CM000685.2:g.108563771C>T	GRCh38
NC_000023.10:g.107807001C>T , CM000685.1:g.107807001C>T	GRCh37
NC_000023.9:g.107693657C>T	NCBI36
NG_011977.1:g.128848C>T
NG_011977.2:g.128848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.232-111C>T MANE Select	ENSP00000331902.7:n.232-111C>T
ENST00000361603.7:c.232-111C>T	ENSP00000354505.2:n.232-111C>T
ENST00000328300.10:c.232-111C>T	ENSP00000331902.6:n.232-111C>T
ENST00000361603.6:c.232-111C>T	ENSP00000354505.2:n.232-111C>T
ENST00000470339.1:n.416-111C>T
NM_000495.4:c.232-111C>T	NP_000486.1:n.232-111C>T
NM_033380.2:c.232-111C>T	NP_203699.1:n.232-111C>T
XM_005262070.2:c.232-111C>T	XP_005262127.1:n.232-111C>T
XM_005262072.3:c.232-111C>T	XP_005262129.1:n.232-111C>T
XM_006724616.2:c.232-111C>T	XP_006724679.1:n.232-111C>T
XM_011530849.1:c.-93-111C>T	XP_011529151.1:n.-93-111C>T
XM_011530850.1:c.232-111C>T	XP_011529152.1:n.232-111C>T
XM_011530849.2:c.247-111C>T	XP_011529151.2:n.247-111C>T
XM_017029259.2:c.247-111C>T	XP_016884748.1:n.247-111C>T
XM_017029260.1:c.247-111C>T	XP_016884749.1:n.247-111C>T
XM_017029261.1:c.247-111C>T	XP_016884750.1:n.247-111C>T
XM_017029262.2:c.247-111C>T	XP_016884751.1:n.247-111C>T
NM_000495.5:c.232-111C>T	NP_000486.1:n.232-111C>T
NM_033380.3:c.232-111C>T MANE Select	NP_203699.1:n.232-111C>T