Canonical Allele Identifier: CA869828647

Gene: COL4A5

Linked Data

• dbSNP Id: rs1227251625
• gnomAD v2: X-107939804-A-C
• gnomAD v3: X-108696574-A-C
• gnomAD v4: X-108696574-A-C
• MyVariant Identifiers: chrX:g.107939804A>C (hg19) ; chrX:g.108696574A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696574A>C , CM000685.2:g.108696574A>C	GRCh38
NC_000023.10:g.107939804A>C , CM000685.1:g.107939804A>C	GRCh37
NC_000023.9:g.107826460A>C	NCBI36
NG_011977.1:g.261651A>C
NG_011977.2:g.261651A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*196A>C MANE Select	ENSP00000331902.7:n.*196A>C
ENST00000361603.7:c.*196A>C	ENSP00000354505.2:n.*196A>C
ENST00000644079.1:n.2960A>C
ENST00000328300.10:c.*196A>C	ENSP00000331902.6:n.*196A>C
ENST00000361603.6:c.*196A>C	ENSP00000354505.2:n.*196A>C
ENST00000504541.1:c.497A>C	ENSP00000424845.1:n.497A>C
ENST00000515658.1:c.602A>C
NM_000495.4:c.*196A>C	NP_000486.1:n.*196A>C
NM_033380.2:c.*196A>C	NP_203699.1:n.*196A>C
XM_005262070.2:c.*196A>C	XP_005262127.1:n.*196A>C
XM_006724616.2:c.*196A>C	XP_006724679.1:n.*196A>C
XM_011530849.1:c.*196A>C	XP_011529151.1:n.*196A>C
XM_011530851.1:c.*196A>C	XP_011529153.1:n.*196A>C
XM_011530849.2:c.*196A>C	XP_011529151.2:n.*196A>C
XM_017029259.2:c.*196A>C	XP_016884748.1:n.*196A>C
XM_017029260.1:c.*196A>C	XP_016884749.1:n.*196A>C
XM_017029263.2:c.*196A>C	XP_016884752.1:n.*196A>C
NM_000495.5:c.*196A>C	NP_000486.1:n.*196A>C
NM_033380.3:c.*196A>C MANE Select	NP_203699.1:n.*196A>C