Canonical Allele Identifier: CA643637361

Gene: COL4A5

Linked Data

• dbSNP Id: rs1318808411
• gnomAD v2: X-107939095-C-T
• gnomAD v3: X-108695865-C-T
• gnomAD v4: X-108695865-C-T
• MyVariant Identifiers: chrX:g.107939095C>T (hg19) ; chrX:g.108695865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695865C>T , CM000685.2:g.108695865C>T	GRCh38
NC_000023.10:g.107939095C>T , CM000685.1:g.107939095C>T	GRCh37
NC_000023.9:g.107825751C>T	NCBI36
NG_011977.1:g.260942C>T
NG_011977.2:g.260942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+426C>T MANE Select	ENSP00000331902.7:n.4994+426C>T
ENST00000361603.7:c.4976+426C>T	ENSP00000354505.2:n.4976+426C>T
ENST00000510690.2:n.1488+426C>T
ENST00000644079.1:n.2251C>T
ENST00000328300.10:c.4994+426C>T	ENSP00000331902.6:n.4994+426C>T
ENST00000361603.6:c.4976+426C>T	ENSP00000354505.2:n.4976+426C>T
ENST00000504541.1:c.220-432C>T	ENSP00000424845.1:n.220-432C>T
ENST00000515658.1:c.325-432C>T
NM_000495.4:c.4976+426C>T	NP_000486.1:n.4976+426C>T
NM_033380.2:c.4994+426C>T	NP_203699.1:n.4994+426C>T
XM_005262070.2:c.4985+426C>T	XP_005262127.1:n.4985+426C>T
XM_006724616.2:c.4994+426C>T	XP_006724679.1:n.4994+426C>T
XM_011530849.1:c.4670+426C>T	XP_011529151.1:n.4670+426C>T
XM_011530851.1:c.2567+426C>T	XP_011529153.1:n.2567+426C>T
XM_011530849.2:c.5009+426C>T	XP_011529151.2:n.5009+426C>T
XM_017029259.2:c.5000+426C>T	XP_016884748.1:n.5000+426C>T
XM_017029260.1:c.4991+426C>T	XP_016884749.1:n.4991+426C>T
XM_017029263.2:c.3329+426C>T	XP_016884752.1:n.3329+426C>T
NM_000495.5:c.4976+426C>T	NP_000486.1:n.4976+426C>T
NM_033380.3:c.4994+426C>T MANE Select	NP_203699.1:n.4994+426C>T