Canonical Allele Identifier: CA2694442749

Gene: COL4A5

Linked Data

• gnomAD v4: X-108680986-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680986C>A , CM000685.2:g.108680986C>A	GRCh38
NC_000023.10:g.107924216C>A , CM000685.1:g.107924216C>A	GRCh37
NC_000023.9:g.107810872C>A	NCBI36
NG_011977.1:g.246063C>A
NG_011977.2:g.246063C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4087+30C>A MANE Select	ENSP00000331902.7:n.4087+30C>A
ENST00000361603.7:c.4069+30C>A	ENSP00000354505.2:n.4069+30C>A
ENST00000510690.2:n.581+30C>A
ENST00000328300.10:c.4087+30C>A	ENSP00000331902.6:n.4087+30C>A
ENST00000361603.6:c.4069+30C>A	ENSP00000354505.2:n.4069+30C>A
ENST00000489230.1:n.490+30C>A
NM_000495.4:c.4069+30C>A	NP_000486.1:n.4069+30C>A
NM_033380.2:c.4087+30C>A	NP_203699.1:n.4087+30C>A
XM_005262070.2:c.4078+30C>A	XP_005262127.1:n.4078+30C>A
XM_006724616.2:c.4087+30C>A	XP_006724679.1:n.4087+30C>A
XM_011530849.1:c.3763+30C>A	XP_011529151.1:n.3763+30C>A
XM_011530851.1:c.1660+30C>A	XP_011529153.1:n.1660+30C>A
XM_011530849.2:c.4102+30C>A	XP_011529151.2:n.4102+30C>A
XM_017029259.2:c.4093+30C>A	XP_016884748.1:n.4093+30C>A
XM_017029260.1:c.4084+30C>A	XP_016884749.1:n.4084+30C>A
XM_017029263.2:c.2422+30C>A	XP_016884752.1:n.2422+30C>A
NM_000495.5:c.4069+30C>A	NP_000486.1:n.4069+30C>A
NM_033380.3:c.4087+30C>A MANE Select	NP_203699.1:n.4087+30C>A