Canonical Allele Identifier: CA643630030

Gene: COL4A5

Linked Data

• dbSNP Id: rs935283756
• gnomAD v2: X-107850225-A-C
• gnomAD v3: X-108606995-A-C
• gnomAD v4: X-108606995-A-C
• MyVariant Identifiers: chrX:g.107850225A>C (hg19) ; chrX:g.108606995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108606995A>C , CM000685.2:g.108606995A>C	GRCh38
NC_000023.10:g.107850225A>C , CM000685.1:g.107850225A>C	GRCh37
NC_000023.9:g.107736881A>C	NCBI36
NG_011977.1:g.172072A>C
NG_011977.2:g.172072A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2395+103A>C MANE Select	ENSP00000331902.7:n.2395+103A>C
ENST00000361603.7:c.2395+103A>C	ENSP00000354505.2:n.2395+103A>C
ENST00000328300.10:c.2395+103A>C	ENSP00000331902.6:n.2395+103A>C
ENST00000361603.6:c.2395+103A>C	ENSP00000354505.2:n.2395+103A>C
ENST00000483338.1:n.1851+103A>C
NM_000495.4:c.2395+103A>C	NP_000486.1:n.2395+103A>C
NM_033380.2:c.2395+103A>C	NP_203699.1:n.2395+103A>C
XM_005262070.2:c.2395+103A>C	XP_005262127.1:n.2395+103A>C
XM_005262072.3:c.2395+103A>C	XP_005262129.1:n.2395+103A>C
XM_006724616.2:c.2395+103A>C	XP_006724679.1:n.2395+103A>C
XM_011530849.1:c.2071+103A>C	XP_011529151.1:n.2071+103A>C
XM_011530850.1:c.2395+103A>C	XP_011529152.1:n.2395+103A>C
XM_011530851.1:c.-33+3934A>C	XP_011529153.1:n.-33+3934A>C
XM_011530849.2:c.2410+103A>C	XP_011529151.2:n.2410+103A>C
XM_017029259.2:c.2410+103A>C	XP_016884748.1:n.2410+103A>C
XM_017029260.1:c.2410+103A>C	XP_016884749.1:n.2410+103A>C
XM_017029261.1:c.2410+103A>C	XP_016884750.1:n.2410+103A>C
XM_017029262.2:c.2410+103A>C	XP_016884751.1:n.2410+103A>C
XM_017029263.2:c.730+103A>C	XP_016884752.1:n.730+103A>C
NM_000495.5:c.2395+103A>C	NP_000486.1:n.2395+103A>C
NM_033380.3:c.2395+103A>C MANE Select	NP_203699.1:n.2395+103A>C