Canonical Allele Identifier: CA518100870

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400454G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157224G>A , CM000685.2:g.108157224G>A	GRCh38
NC_000023.10:g.107400454G>A , CM000685.1:g.107400454G>A	GRCh37
NC_000023.9:g.107287110G>A	NCBI36
NG_012059.2:g.287251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4849C>T MANE Select	ENSP00000334733.7:p.Leu1617=
ENST00000334504.11:c.4849C>T	ENSP00000334733.7:p.Leu1617=
ENST00000372216.8:c.4852C>T	ENSP00000361290.4:p.Leu1618=
ENST00000394872.6:c.4900C>T	ENSP00000378340.3:p.Leu1634=
ENST00000538570.5:c.4678C>T	ENSP00000445236.1:p.Leu1560=
ENST00000545689.2:c.4813C>T	ENSP00000443707.2:p.Leu1605=
ENST00000621266.4:c.4777C>T	ENSP00000482970.1:p.Leu1593=
NM_001287758.1:c.4900C>T	NP_001274687.1:p.Leu1634=
NM_001287759.1:c.4777C>T	NP_001274688.1:p.Leu1593=
NM_001287760.1:c.4678C>T	NP_001274689.1:p.Leu1560=
NM_001847.3:c.4852C>T	NP_001838.2:p.Leu1618=
NM_033641.3:c.4849C>T	NP_378667.1:p.Leu1617=
XM_006724617.2:c.4903C>T	XP_006724680.1:p.Leu1635=
XM_011530852.1:c.4831C>T	XP_011529154.1:p.Leu1611=
XM_011530853.1:c.4819C>T	XP_011529155.1:p.Leu1607=
XM_006724617.3:c.4903C>T	XP_006724680.1:p.Leu1635=
XM_011530852.2:c.4831C>T	XP_011529154.1:p.Leu1611=
XM_011530853.3:c.4819C>T	XP_011529155.1:p.Leu1607=
NM_001847.4:c.4852C>T	NP_001838.2:p.Leu1618=
NM_033641.4:c.4849C>T MANE Select	NP_378667.1:p.Leu1617=
NM_001287758.2:c.4900C>T	NP_001274687.1:p.Leu1634=
NM_001287759.2:c.4777C>T	NP_001274688.1:p.Leu1593=
NM_001287760.2:c.4678C>T	NP_001274689.1:p.Leu1560=