Canonical Allele Identifier: CA413848681

Gene: COL4A6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4850T>A MANE Select	ENSP00000334733.7:p.Leu1617Gln
ENST00000334504.11:c.4850T>A	ENSP00000334733.7:p.Leu1617Gln
ENST00000372216.8:c.4853T>A	ENSP00000361290.4:p.Leu1618Gln
ENST00000394872.6:c.4901T>A	ENSP00000378340.3:p.Leu1634Gln
ENST00000538570.5:c.4679T>A	ENSP00000445236.1:p.Leu1560Gln
ENST00000545689.2:c.4814T>A	ENSP00000443707.2:p.Leu1605Gln
ENST00000621266.4:c.4778T>A	ENSP00000482970.1:p.Leu1593Gln
NM_001287758.1:c.4901T>A	NP_001274687.1:p.Leu1634Gln
NM_001287759.1:c.4778T>A	NP_001274688.1:p.Leu1593Gln
NM_001287760.1:c.4679T>A	NP_001274689.1:p.Leu1560Gln
NM_001847.3:c.4853T>A	NP_001838.2:p.Leu1618Gln
NM_033641.3:c.4850T>A	NP_378667.1:p.Leu1617Gln
XM_006724617.2:c.4904T>A	XP_006724680.1:p.Leu1635Gln
XM_011530852.1:c.4832T>A	XP_011529154.1:p.Leu1611Gln
XM_011530853.1:c.4820T>A	XP_011529155.1:p.Leu1607Gln
XM_006724617.3:c.4904T>A	XP_006724680.1:p.Leu1635Gln
XM_011530852.2:c.4832T>A	XP_011529154.1:p.Leu1611Gln
XM_011530853.3:c.4820T>A	XP_011529155.1:p.Leu1607Gln
NM_001847.4:c.4853T>A	NP_001838.2:p.Leu1618Gln
NM_033641.4:c.4850T>A MANE Select	NP_378667.1:p.Leu1617Gln
NM_001287758.2:c.4901T>A	NP_001274687.1:p.Leu1634Gln
NM_001287759.2:c.4778T>A	NP_001274688.1:p.Leu1593Gln
NM_001287760.2:c.4679T>A	NP_001274689.1:p.Leu1560Gln