Canonical Allele Identifier: CA869825237

Gene: COL4A5

Linked Data

• dbSNP Id: rs1366930155
• gnomAD v4: X-108687711-C-T
• MyVariant Identifiers: chrX:g.107930941C>T (hg19) ; chrX:g.108687711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687711C>T , CM000685.2:g.108687711C>T	GRCh38
NC_000023.10:g.107930941C>T , CM000685.1:g.107930941C>T	GRCh37
NC_000023.9:g.107817597C>T	NCBI36
NG_011977.1:g.252788C>T
NG_011977.2:g.252788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4528+17C>T MANE Select	ENSP00000331902.7:n.4528+17C>T
ENST00000361603.7:c.4510+17C>T	ENSP00000354505.2:n.4510+17C>T
ENST00000510690.2:n.1022+17C>T
ENST00000328300.10:c.4528+17C>T	ENSP00000331902.6:n.4528+17C>T
ENST00000361603.6:c.4510+17C>T	ENSP00000354505.2:n.4510+17C>T
ENST00000515658.1:c.324+17C>T
NM_000495.4:c.4510+17C>T	NP_000486.1:n.4510+17C>T
NM_033380.2:c.4528+17C>T	NP_203699.1:n.4528+17C>T
XM_005262070.2:c.4519+17C>T	XP_005262127.1:n.4519+17C>T
XM_006724616.2:c.4528+17C>T	XP_006724679.1:n.4528+17C>T
XM_011530849.1:c.4204+17C>T	XP_011529151.1:n.4204+17C>T
XM_011530851.1:c.2101+17C>T	XP_011529153.1:n.2101+17C>T
XM_011530849.2:c.4543+17C>T	XP_011529151.2:n.4543+17C>T
XM_017029259.2:c.4534+17C>T	XP_016884748.1:n.4534+17C>T
XM_017029260.1:c.4525+17C>T	XP_016884749.1:n.4525+17C>T
XM_017029263.2:c.2863+17C>T	XP_016884752.1:n.2863+17C>T
NM_000495.5:c.4510+17C>T	NP_000486.1:n.4510+17C>T
NM_033380.3:c.4528+17C>T MANE Select	NP_203699.1:n.4528+17C>T