Canonical Allele Identifier: CA2697544696

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2772942
• ClinVar RCV Id: RCV003576933

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686025C>G , CM000685.2:g.108686025C>G	GRCh38
NC_000023.10:g.107929255C>G , CM000685.1:g.107929255C>G	GRCh37
NC_000023.9:g.107815911C>G	NCBI36
NG_011977.1:g.251102C>G
NG_011977.2:g.251102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4217-6C>G MANE Select	ENSP00000331902.7:n.4217-6C>G
ENST00000361603.7:c.4199-6C>G	ENSP00000354505.2:n.4199-6C>G
ENST00000510690.2:n.711-6C>G
ENST00000328300.10:c.4217-6C>G	ENSP00000331902.6:n.4217-6C>G
ENST00000361603.6:c.4199-6C>G	ENSP00000354505.2:n.4199-6C>G
ENST00000489230.1:n.620-6C>G
ENST00000515658.1:c.13-6C>G
NM_000495.4:c.4199-6C>G	NP_000486.1:n.4199-6C>G
NM_033380.2:c.4217-6C>G	NP_203699.1:n.4217-6C>G
XM_005262070.2:c.4208-6C>G	XP_005262127.1:n.4208-6C>G
XM_006724616.2:c.4217-6C>G	XP_006724679.1:n.4217-6C>G
XM_011530849.1:c.3893-6C>G	XP_011529151.1:n.3893-6C>G
XM_011530851.1:c.1790-6C>G	XP_011529153.1:n.1790-6C>G
XM_011530849.2:c.4232-6C>G	XP_011529151.2:n.4232-6C>G
XM_017029259.2:c.4223-6C>G	XP_016884748.1:n.4223-6C>G
XM_017029260.1:c.4214-6C>G	XP_016884749.1:n.4214-6C>G
XM_017029263.2:c.2552-6C>G	XP_016884752.1:n.2552-6C>G
NM_000495.5:c.4199-6C>G	NP_000486.1:n.4199-6C>G
NM_033380.3:c.4217-6C>G MANE Select	NP_203699.1:n.4217-6C>G