Canonical Allele Identifier: CA2694442631

Gene: COL4A5

Linked Data

• gnomAD v4: X-108680575-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680575C>A , CM000685.2:g.108680575C>A	GRCh38
NC_000023.10:g.107923805C>A , CM000685.1:g.107923805C>A	GRCh37
NC_000023.9:g.107810461C>A	NCBI36
NG_011977.1:g.245652C>A
NG_011977.2:g.245652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3943-104C>A MANE Select	ENSP00000331902.7:n.3943-104C>A
ENST00000361603.7:c.3925-104C>A	ENSP00000354505.2:n.3925-104C>A
ENST00000510690.2:n.437-104C>A
ENST00000328300.10:c.3943-104C>A	ENSP00000331902.6:n.3943-104C>A
ENST00000361603.6:c.3925-104C>A	ENSP00000354505.2:n.3925-104C>A
ENST00000489230.1:n.346-104C>A
NM_000495.4:c.3925-104C>A	NP_000486.1:n.3925-104C>A
NM_033380.2:c.3943-104C>A	NP_203699.1:n.3943-104C>A
XM_005262070.2:c.3934-104C>A	XP_005262127.1:n.3934-104C>A
XM_006724616.2:c.3943-104C>A	XP_006724679.1:n.3943-104C>A
XM_011530849.1:c.3619-104C>A	XP_011529151.1:n.3619-104C>A
XM_011530851.1:c.1516-104C>A	XP_011529153.1:n.1516-104C>A
XM_011530849.2:c.3958-104C>A	XP_011529151.2:n.3958-104C>A
XM_017029259.2:c.3949-104C>A	XP_016884748.1:n.3949-104C>A
XM_017029260.1:c.3940-104C>A	XP_016884749.1:n.3940-104C>A
XM_017029261.1:c.*311C>A	XP_016884750.1:n.*311C>A
XM_017029263.2:c.2278-104C>A	XP_016884752.1:n.2278-104C>A
NM_000495.5:c.3925-104C>A	NP_000486.1:n.3925-104C>A
NM_033380.3:c.3943-104C>A MANE Select	NP_203699.1:n.3943-104C>A