Canonical Allele Identifier: CA2694414459

Gene: COL4A5

Linked Data

• gnomAD v4: X-108681943-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681943C>A , CM000685.2:g.108681943C>A	GRCh38
NC_000023.10:g.107925173C>A , CM000685.1:g.107925173C>A	GRCh37
NC_000023.9:g.107811829C>A	NCBI36
NG_011977.1:g.247020C>A
NG_011977.2:g.247020C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4216+55C>A MANE Select	ENSP00000331902.7:n.4216+55C>A
ENST00000361603.7:c.4198+55C>A	ENSP00000354505.2:n.4198+55C>A
ENST00000510690.2:n.710+55C>A
ENST00000328300.10:c.4216+55C>A	ENSP00000331902.6:n.4216+55C>A
ENST00000361603.6:c.4198+55C>A	ENSP00000354505.2:n.4198+55C>A
ENST00000489230.1:n.619+55C>A
ENST00000515658.1:c.12+55C>A
NM_000495.4:c.4198+55C>A	NP_000486.1:n.4198+55C>A
NM_033380.2:c.4216+55C>A	NP_203699.1:n.4216+55C>A
XM_005262070.2:c.4207+55C>A	XP_005262127.1:n.4207+55C>A
XM_006724616.2:c.4216+55C>A	XP_006724679.1:n.4216+55C>A
XM_011530849.1:c.3892+55C>A	XP_011529151.1:n.3892+55C>A
XM_011530851.1:c.1789+55C>A	XP_011529153.1:n.1789+55C>A
XM_011530849.2:c.4231+55C>A	XP_011529151.2:n.4231+55C>A
XM_017029259.2:c.4222+55C>A	XP_016884748.1:n.4222+55C>A
XM_017029260.1:c.4213+55C>A	XP_016884749.1:n.4213+55C>A
XM_017029263.2:c.2551+55C>A	XP_016884752.1:n.2551+55C>A
NM_000495.5:c.4198+55C>A	NP_000486.1:n.4198+55C>A
NM_033380.3:c.4216+55C>A MANE Select	NP_203699.1:n.4216+55C>A