Canonical Allele Identifier: CA413854441

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1074048
• ClinVar RCV Id: RCV001387223
• dbSNP Id: rs2147991488
• MyVariant Identifiers: chrX:g.107930842C>G (hg19) ; chrX:g.108687612C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4446C>G MANE Select	ENSP00000331902.7:p.Cys1482Trp
ENST00000361603.7:c.4428C>G	ENSP00000354505.2:p.Cys1476Trp
ENST00000510690.2:n.940C>G
ENST00000328300.10:c.4446C>G	ENSP00000331902.6:p.Cys1482Trp
ENST00000361603.6:c.4428C>G	ENSP00000354505.2:p.Cys1476Trp
ENST00000515658.1:c.242C>G
NM_000495.4:c.4428C>G	NP_000486.1:p.Cys1476Trp
NM_033380.2:c.4446C>G	NP_203699.1:p.Cys1482Trp
XM_005262070.2:c.4437C>G	XP_005262127.1:p.Cys1479Trp
XM_006724616.2:c.4446C>G	XP_006724679.1:p.Cys1482Trp
XM_011530849.1:c.4122C>G	XP_011529151.1:p.Cys1374Trp
XM_011530851.1:c.2019C>G	XP_011529153.1:p.Cys673Trp
XM_011530849.2:c.4461C>G	XP_011529151.2:p.Cys1487Trp
XM_017029259.2:c.4452C>G	XP_016884748.1:p.Cys1484Trp
XM_017029260.1:c.4443C>G	XP_016884749.1:p.Cys1481Trp
XM_017029263.2:c.2781C>G	XP_016884752.1:p.Cys927Trp
NM_000495.5:c.4428C>G	NP_000486.1:p.Cys1476Trp
NM_033380.3:c.4446C>G MANE Select	NP_203699.1:p.Cys1482Trp