Canonical Allele Identifier: CA2450716944

Gene: COL4A5

Linked Data

• dbSNP Id: rs903391135

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681014A>C , CM000685.2:g.108681014A>C	GRCh38
NC_000023.10:g.107924244A>C , CM000685.1:g.107924244A>C	GRCh37
NC_000023.9:g.107810900A>C	NCBI36
NG_011977.1:g.246091A>C
NG_011977.2:g.246091A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4087+58A>C MANE Select	ENSP00000331902.7:n.4087+58A>C
ENST00000361603.7:c.4069+58A>C	ENSP00000354505.2:n.4069+58A>C
ENST00000510690.2:n.581+58A>C
ENST00000328300.10:c.4087+58A>C	ENSP00000331902.6:n.4087+58A>C
ENST00000361603.6:c.4069+58A>C	ENSP00000354505.2:n.4069+58A>C
ENST00000489230.1:n.490+58A>C
NM_000495.4:c.4069+58A>C	NP_000486.1:n.4069+58A>C
NM_033380.2:c.4087+58A>C	NP_203699.1:n.4087+58A>C
XM_005262070.2:c.4078+58A>C	XP_005262127.1:n.4078+58A>C
XM_006724616.2:c.4087+58A>C	XP_006724679.1:n.4087+58A>C
XM_011530849.1:c.3763+58A>C	XP_011529151.1:n.3763+58A>C
XM_011530851.1:c.1660+58A>C	XP_011529153.1:n.1660+58A>C
XM_011530849.2:c.4102+58A>C	XP_011529151.2:n.4102+58A>C
XM_017029259.2:c.4093+58A>C	XP_016884748.1:n.4093+58A>C
XM_017029260.1:c.4084+58A>C	XP_016884749.1:n.4084+58A>C
XM_017029263.2:c.2422+58A>C	XP_016884752.1:n.2422+58A>C
NM_000495.5:c.4069+58A>C	NP_000486.1:n.4069+58A>C
NM_033380.3:c.4087+58A>C MANE Select	NP_203699.1:n.4087+58A>C