Canonical Allele Identifier: CA1136196689

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068654678

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692671G>C , CM000685.2:g.108692671G>C	GRCh38
NC_000023.10:g.107935901G>C , CM000685.1:g.107935901G>C	GRCh37
NC_000023.9:g.107822557G>C	NCBI36
NG_011977.1:g.257748G>C
NG_011977.2:g.257748G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4529-77G>C MANE Select	ENSP00000331902.7:n.4529-77G>C
ENST00000361603.7:c.4511-77G>C	ENSP00000354505.2:n.4511-77G>C
ENST00000510690.2:n.1023-77G>C
ENST00000328300.10:c.4529-77G>C	ENSP00000331902.6:n.4529-77G>C
ENST00000361603.6:c.4511-77G>C	ENSP00000354505.2:n.4511-77G>C
ENST00000515658.1:c.325-3626G>C
NM_000495.4:c.4511-77G>C	NP_000486.1:n.4511-77G>C
NM_033380.2:c.4529-77G>C	NP_203699.1:n.4529-77G>C
XM_005262070.2:c.4520-77G>C	XP_005262127.1:n.4520-77G>C
XM_006724616.2:c.4529-77G>C	XP_006724679.1:n.4529-77G>C
XM_011530849.1:c.4205-77G>C	XP_011529151.1:n.4205-77G>C
XM_011530851.1:c.2102-77G>C	XP_011529153.1:n.2102-77G>C
XM_011530849.2:c.4544-77G>C	XP_011529151.2:n.4544-77G>C
XM_017029259.2:c.4535-77G>C	XP_016884748.1:n.4535-77G>C
XM_017029260.1:c.4526-77G>C	XP_016884749.1:n.4526-77G>C
XM_017029263.2:c.2864-77G>C	XP_016884752.1:n.2864-77G>C
NM_000495.5:c.4511-77G>C	NP_000486.1:n.4511-77G>C
NM_033380.3:c.4529-77G>C MANE Select	NP_203699.1:n.4529-77G>C