Canonical Allele Identifier: CA643744417

Gene: COL4A5

Linked Data

• dbSNP Id: rs1265504076
• gnomAD v2: X-107683116-G-C
• gnomAD v3: X-108439886-G-C
• gnomAD v4: X-108439886-G-C
• MyVariant Identifiers: chrX:g.107683116G>C (hg19) ; chrX:g.108439886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439886G>C , CM000685.2:g.108439886G>C	GRCh38
NC_000023.10:g.107683116G>C , CM000685.1:g.107683116G>C	GRCh37
NC_000023.9:g.107569772G>C	NCBI36
NG_011977.1:g.4963G>C
NG_012059.2:g.4589C>G
NG_011977.2:g.4963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-240G>C MANE Select	ENSP00000331902.7:n.-240G>C
ENST00000328300.10:c.-240G>C	ENSP00000331902.6:n.-240G>C
ENST00000361603.6:c.-240G>C	ENSP00000354505.2:n.-240G>C
ENST00000477429.1:n.43G>C
NM_000495.4:c.-240G>C	NP_000486.1:n.-240G>C
NM_033380.2:c.-240G>C	NP_203699.1:n.-240G>C
XM_005262070.2:c.-240G>C	XP_005262127.1:n.-240G>C
XM_005262072.3:c.-240G>C	XP_005262129.1:n.-240G>C
XM_006724616.2:c.-121+91G>C	XP_006724679.1:n.-121+91G>C
XM_011530850.1:c.-240G>C	XP_011529152.1:n.-240G>C
NM_000495.5:c.-240G>C	NP_000486.1:n.-240G>C
NM_033380.3:c.-240G>C MANE Select	NP_203699.1:n.-240G>C