Canonical Allele Identifier: CA413854440

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687612C>A , CM000685.2:g.108687612C>A	GRCh38
NC_000023.10:g.107930842C>A , CM000685.1:g.107930842C>A	GRCh37
NC_000023.9:g.107817498C>A	NCBI36
NG_011977.1:g.252689C>A
NG_011977.2:g.252689C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4446C>A MANE Select	NP_203699.1:p.Cys1482Ter
ENST00000328300.11:c.4446C>A MANE Select	ENSP00000331902.7:p.Cys1482Ter
NM_000495.4:c.4428C>A	NP_000486.1:p.Cys1476Ter
NM_000495.5:c.4428C>A	NP_000486.1:p.Cys1476Ter
NM_033380.2:c.4446C>A	NP_203699.1:p.Cys1482Ter
ENST00000328300.10:c.4446C>A	ENSP00000331902.6:p.Cys1482Ter
ENST00000361603.6:c.4428C>A	ENSP00000354505.2:p.Cys1476Ter
ENST00000361603.7:c.4428C>A	ENSP00000354505.2:p.Cys1476Ter
ENST00000510690.2:n.940C>A
ENST00000515658.1:c.242C>A
XM_005262070.2:c.4437C>A	XP_005262127.1:p.Cys1479Ter
XM_006724616.2:c.4446C>A	XP_006724679.1:p.Cys1482Ter
XM_011530849.1:c.4122C>A	XP_011529151.1:p.Cys1374Ter
XM_011530849.2:c.4461C>A	XP_011529151.2:p.Cys1487Ter
XM_011530851.1:c.2019C>A	XP_011529153.1:p.Cys673Ter
XM_017029259.2:c.4452C>A	XP_016884748.1:p.Cys1484Ter
XM_017029260.1:c.4443C>A	XP_016884749.1:p.Cys1481Ter
XM_017029263.2:c.2781C>A	XP_016884752.1:p.Cys927Ter