Canonical Allele Identifier: CA413848438

Gene: COL4A6

Linked Data

• ClinVar Variation Id: 1501622
• ClinVar RCV Id: RCV002042858
• dbSNP Id: rs1384376976
• MyVariant Identifiers: chrX:g.107400404G>C (hg19) ; chrX:g.108157174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157174G>C , CM000685.2:g.108157174G>C	GRCh38
NC_000023.10:g.107400404G>C , CM000685.1:g.107400404G>C	GRCh37
NC_000023.9:g.107287060G>C	NCBI36
NG_012059.2:g.287301C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4899C>G MANE Select	ENSP00000334733.7:p.Ile1633Met
ENST00000334504.11:c.4899C>G	ENSP00000334733.7:p.Ile1633Met
ENST00000372216.8:c.4902C>G	ENSP00000361290.4:p.Ile1634Met
ENST00000394872.6:c.4950C>G	ENSP00000378340.3:p.Ile1650Met
ENST00000538570.5:c.4728C>G	ENSP00000445236.1:p.Ile1576Met
ENST00000545689.2:c.4863C>G	ENSP00000443707.2:p.Ile1621Met
ENST00000621266.4:c.4827C>G	ENSP00000482970.1:p.Ile1609Met
NM_001287758.1:c.4950C>G	NP_001274687.1:p.Ile1650Met
NM_001287759.1:c.4827C>G	NP_001274688.1:p.Ile1609Met
NM_001287760.1:c.4728C>G	NP_001274689.1:p.Ile1576Met
NM_001847.3:c.4902C>G	NP_001838.2:p.Ile1634Met
NM_033641.3:c.4899C>G	NP_378667.1:p.Ile1633Met
XM_006724617.2:c.4953C>G	XP_006724680.1:p.Ile1651Met
XM_011530852.1:c.4881C>G	XP_011529154.1:p.Ile1627Met
XM_011530853.1:c.4869C>G	XP_011529155.1:p.Ile1623Met
XM_006724617.3:c.4953C>G	XP_006724680.1:p.Ile1651Met
XM_011530852.2:c.4881C>G	XP_011529154.1:p.Ile1627Met
XM_011530853.3:c.4869C>G	XP_011529155.1:p.Ile1623Met
NM_001847.4:c.4902C>G	NP_001838.2:p.Ile1634Met
NM_033641.4:c.4899C>G MANE Select	NP_378667.1:p.Ile1633Met
NM_001287758.2:c.4950C>G	NP_001274687.1:p.Ile1650Met
NM_001287759.2:c.4827C>G	NP_001274688.1:p.Ile1609Met
NM_001287760.2:c.4728C>G	NP_001274689.1:p.Ile1576Met