Canonical Allele Identifier: CA334149856

Gene: COL4A5

Linked Data

• dbSNP Id: rs761943626
• gnomAD v3: X-108439968-T-C
• gnomAD v4: X-108439968-T-C
• MyVariant Identifiers: chrX:g.107683198T>C (hg19) ; chrX:g.108439968T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439968T>C , CM000685.2:g.108439968T>C	GRCh38
NC_000023.10:g.107683198T>C , CM000685.1:g.107683198T>C	GRCh37
NC_000023.9:g.107569854T>C	NCBI36
NG_011977.1:g.5045T>C
NG_012059.2:g.4507A>G
NG_011977.2:g.5045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-158T>C MANE Select	ENSP00000331902.7:n.-158T>C
ENST00000361603.7:c.-158T>C	ENSP00000354505.2:n.-158T>C
ENST00000642185.1:c.-158T>C	ENSP00000495101.1:n.-158T>C
ENST00000328300.10:c.-158T>C	ENSP00000331902.6:n.-158T>C
ENST00000361603.6:c.-158T>C	ENSP00000354505.2:n.-158T>C
ENST00000470339.1:n.27T>C
ENST00000477429.1:n.125T>C
NM_000495.4:c.-158T>C	NP_000486.1:n.-158T>C
NM_033380.2:c.-158T>C	NP_203699.1:n.-158T>C
XM_005262070.2:c.-158T>C	XP_005262127.1:n.-158T>C
XM_005262072.3:c.-158T>C	XP_005262129.1:n.-158T>C
XM_006724616.2:c.-120-38T>C	XP_006724679.1:n.-120-38T>C
XM_011530850.1:c.-158T>C	XP_011529152.1:n.-158T>C
NM_000495.5:c.-158T>C	NP_000486.1:n.-158T>C
NM_033380.3:c.-158T>C MANE Select	NP_203699.1:n.-158T>C