Canonical Allele Identifier: CA413848678

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400453A>G (hg19) ; chrX:g.108157223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157223A>G , CM000685.2:g.108157223A>G	GRCh38
NC_000023.10:g.107400453A>G , CM000685.1:g.107400453A>G	GRCh37
NC_000023.9:g.107287109A>G	NCBI36
NG_012059.2:g.287252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4850T>C MANE Select	ENSP00000334733.7:p.Leu1617Pro
ENST00000334504.11:c.4850T>C	ENSP00000334733.7:p.Leu1617Pro
ENST00000372216.8:c.4853T>C	ENSP00000361290.4:p.Leu1618Pro
ENST00000394872.6:c.4901T>C	ENSP00000378340.3:p.Leu1634Pro
ENST00000538570.5:c.4679T>C	ENSP00000445236.1:p.Leu1560Pro
ENST00000545689.2:c.4814T>C	ENSP00000443707.2:p.Leu1605Pro
ENST00000621266.4:c.4778T>C	ENSP00000482970.1:p.Leu1593Pro
NM_001287758.1:c.4901T>C	NP_001274687.1:p.Leu1634Pro
NM_001287759.1:c.4778T>C	NP_001274688.1:p.Leu1593Pro
NM_001287760.1:c.4679T>C	NP_001274689.1:p.Leu1560Pro
NM_001847.3:c.4853T>C	NP_001838.2:p.Leu1618Pro
NM_033641.3:c.4850T>C	NP_378667.1:p.Leu1617Pro
XM_006724617.2:c.4904T>C	XP_006724680.1:p.Leu1635Pro
XM_011530852.1:c.4832T>C	XP_011529154.1:p.Leu1611Pro
XM_011530853.1:c.4820T>C	XP_011529155.1:p.Leu1607Pro
XM_006724617.3:c.4904T>C	XP_006724680.1:p.Leu1635Pro
XM_011530852.2:c.4832T>C	XP_011529154.1:p.Leu1611Pro
XM_011530853.3:c.4820T>C	XP_011529155.1:p.Leu1607Pro
NM_001847.4:c.4853T>C	NP_001838.2:p.Leu1618Pro
NM_033641.4:c.4850T>C MANE Select	NP_378667.1:p.Leu1617Pro
NM_001287758.2:c.4901T>C	NP_001274687.1:p.Leu1634Pro
NM_001287759.2:c.4778T>C	NP_001274688.1:p.Leu1593Pro
NM_001287760.2:c.4679T>C	NP_001274689.1:p.Leu1560Pro