Canonical Allele Identifier: CA2694411307

Gene: COL4A5

Linked Data

• gnomAD v4: X-108573790-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108573790C>T , CM000685.2:g.108573790C>T	GRCh38
NC_000023.10:g.107817020C>T , CM000685.1:g.107817020C>T	GRCh37
NC_000023.9:g.107703676C>T	NCBI36
NG_011977.1:g.138867C>T
NG_011977.2:g.138867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.546+136C>T MANE Select	ENSP00000331902.7:n.546+136C>T
ENST00000361603.7:c.546+136C>T	ENSP00000354505.2:n.546+136C>T
ENST00000328300.10:c.546+136C>T	ENSP00000331902.6:n.546+136C>T
ENST00000361603.6:c.546+136C>T	ENSP00000354505.2:n.546+136C>T
NM_000495.4:c.546+136C>T	NP_000486.1:n.546+136C>T
NM_033380.2:c.546+136C>T	NP_203699.1:n.546+136C>T
XM_005262070.2:c.546+136C>T	XP_005262127.1:n.546+136C>T
XM_005262072.3:c.546+136C>T	XP_005262129.1:n.546+136C>T
XM_006724616.2:c.546+136C>T	XP_006724679.1:n.546+136C>T
XM_011530849.1:c.222+136C>T	XP_011529151.1:n.222+136C>T
XM_011530850.1:c.546+136C>T	XP_011529152.1:n.546+136C>T
XM_011530849.2:c.561+136C>T	XP_011529151.2:n.561+136C>T
XM_017029259.2:c.561+136C>T	XP_016884748.1:n.561+136C>T
XM_017029260.1:c.561+136C>T	XP_016884749.1:n.561+136C>T
XM_017029261.1:c.561+136C>T	XP_016884750.1:n.561+136C>T
XM_017029262.2:c.561+136C>T	XP_016884751.1:n.561+136C>T
NM_000495.5:c.546+136C>T	NP_000486.1:n.546+136C>T
NM_033380.3:c.546+136C>T MANE Select	NP_203699.1:n.546+136C>T