Canonical Allele Identifier: CA413848882

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400486G>C (hg19) ; chrX:g.108157256G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157256G>C , CM000685.2:g.108157256G>C	GRCh38
NC_000023.10:g.107400486G>C , CM000685.1:g.107400486G>C	GRCh37
NC_000023.9:g.107287142G>C	NCBI36
NG_012059.2:g.287219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4817C>G MANE Select	ENSP00000334733.7:p.Thr1606Ser
ENST00000334504.11:c.4817C>G	ENSP00000334733.7:p.Thr1606Ser
ENST00000372216.8:c.4820C>G	ENSP00000361290.4:p.Thr1607Ser
ENST00000394872.6:c.4868C>G	ENSP00000378340.3:p.Thr1623Ser
ENST00000538570.5:c.4646C>G	ENSP00000445236.1:p.Thr1549Ser
ENST00000545689.2:c.4781C>G	ENSP00000443707.2:p.Thr1594Ser
ENST00000621266.4:c.4745C>G	ENSP00000482970.1:p.Thr1582Ser
NM_001287758.1:c.4868C>G	NP_001274687.1:p.Thr1623Ser
NM_001287759.1:c.4745C>G	NP_001274688.1:p.Thr1582Ser
NM_001287760.1:c.4646C>G	NP_001274689.1:p.Thr1549Ser
NM_001847.3:c.4820C>G	NP_001838.2:p.Thr1607Ser
NM_033641.3:c.4817C>G	NP_378667.1:p.Thr1606Ser
XM_006724617.2:c.4871C>G	XP_006724680.1:p.Thr1624Ser
XM_011530852.1:c.4799C>G	XP_011529154.1:p.Thr1600Ser
XM_011530853.1:c.4787C>G	XP_011529155.1:p.Thr1596Ser
XM_006724617.3:c.4871C>G	XP_006724680.1:p.Thr1624Ser
XM_011530852.2:c.4799C>G	XP_011529154.1:p.Thr1600Ser
XM_011530853.3:c.4787C>G	XP_011529155.1:p.Thr1596Ser
NM_001847.4:c.4820C>G	NP_001838.2:p.Thr1607Ser
NM_033641.4:c.4817C>G MANE Select	NP_378667.1:p.Thr1606Ser
NM_001287758.2:c.4868C>G	NP_001274687.1:p.Thr1623Ser
NM_001287759.2:c.4745C>G	NP_001274688.1:p.Thr1582Ser
NM_001287760.2:c.4646C>G	NP_001274689.1:p.Thr1549Ser