Canonical Allele Identifier: CA10489026

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1974283
• ClinVar RCV Id: RCV002741320
• dbSNP Id: rs760527672
• ExAC: X:107868985 C / A
• gnomAD v2: X-107868985-C-A
• gnomAD v4: X-108625755-C-A
• MyVariant Identifiers: chrX:g.107868985C>A (hg19) ; chrX:g.108625755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108625755C>A , CM000685.2:g.108625755C>A	GRCh38
NC_000023.10:g.107868985C>A , CM000685.1:g.107868985C>A	GRCh37
NC_000023.9:g.107755641C>A	NCBI36
NG_011977.1:g.190832C>A
NG_011977.2:g.190832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3067C>A MANE Select	ENSP00000331902.7:p.Pro1023Thr
ENST00000361603.7:c.3067C>A	ENSP00000354505.2:p.Pro1023Thr
ENST00000328300.10:c.3067C>A	ENSP00000331902.6:p.Pro1023Thr
ENST00000361603.6:c.3067C>A	ENSP00000354505.2:p.Pro1023Thr
ENST00000483338.1:n.2523C>A
ENST00000505728.1:c.300C>A
NM_000495.4:c.3067C>A	NP_000486.1:p.Pro1023Thr
NM_033380.2:c.3067C>A	NP_203699.1:p.Pro1023Thr
XM_005262070.2:c.3067C>A	XP_005262127.1:p.Pro1023Thr
XM_005262072.3:c.3067C>A	XP_005262129.1:p.Pro1023Thr
XM_006724616.2:c.3067C>A	XP_006724679.1:p.Pro1023Thr
XM_011530849.1:c.2743C>A	XP_011529151.1:p.Pro915Thr
XM_011530850.1:c.3067C>A	XP_011529152.1:p.Pro1023Thr
XM_011530851.1:c.640C>A	XP_011529153.1:p.Pro214Thr
XM_011530849.2:c.3082C>A	XP_011529151.2:p.Pro1028Thr
XM_017029259.2:c.3082C>A	XP_016884748.1:p.Pro1028Thr
XM_017029260.1:c.3082C>A	XP_016884749.1:p.Pro1028Thr
XM_017029261.1:c.3082C>A	XP_016884750.1:p.Pro1028Thr
XM_017029262.2:c.3082C>A	XP_016884751.1:p.Pro1028Thr
XM_017029263.2:c.1402C>A	XP_016884752.1:p.Pro468Thr
NM_000495.5:c.3067C>A	NP_000486.1:p.Pro1023Thr
NM_033380.3:c.3067C>A MANE Select	NP_203699.1:p.Pro1023Thr