Canonical Allele Identifier: CA413848891

Gene: COL4A6

Linked Data

• dbSNP Id: rs1312046611
• gnomAD v2: X-107400487-T-C
• gnomAD v4: X-108157257-T-C
• MyVariant Identifiers: chrX:g.107400487T>C (hg19) ; chrX:g.108157257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157257T>C , CM000685.2:g.108157257T>C	GRCh38
NC_000023.10:g.107400487T>C , CM000685.1:g.107400487T>C	GRCh37
NC_000023.9:g.107287143T>C	NCBI36
NG_012059.2:g.287218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4816A>G MANE Select	ENSP00000334733.7:p.Thr1606Ala
ENST00000334504.11:c.4816A>G	ENSP00000334733.7:p.Thr1606Ala
ENST00000372216.8:c.4819A>G	ENSP00000361290.4:p.Thr1607Ala
ENST00000394872.6:c.4867A>G	ENSP00000378340.3:p.Thr1623Ala
ENST00000538570.5:c.4645A>G	ENSP00000445236.1:p.Thr1549Ala
ENST00000545689.2:c.4780A>G	ENSP00000443707.2:p.Thr1594Ala
ENST00000621266.4:c.4744A>G	ENSP00000482970.1:p.Thr1582Ala
NM_001287758.1:c.4867A>G	NP_001274687.1:p.Thr1623Ala
NM_001287759.1:c.4744A>G	NP_001274688.1:p.Thr1582Ala
NM_001287760.1:c.4645A>G	NP_001274689.1:p.Thr1549Ala
NM_001847.3:c.4819A>G	NP_001838.2:p.Thr1607Ala
NM_033641.3:c.4816A>G	NP_378667.1:p.Thr1606Ala
XM_006724617.2:c.4870A>G	XP_006724680.1:p.Thr1624Ala
XM_011530852.1:c.4798A>G	XP_011529154.1:p.Thr1600Ala
XM_011530853.1:c.4786A>G	XP_011529155.1:p.Thr1596Ala
XM_006724617.3:c.4870A>G	XP_006724680.1:p.Thr1624Ala
XM_011530852.2:c.4798A>G	XP_011529154.1:p.Thr1600Ala
XM_011530853.3:c.4786A>G	XP_011529155.1:p.Thr1596Ala
NM_001847.4:c.4819A>G	NP_001838.2:p.Thr1607Ala
NM_033641.4:c.4816A>G MANE Select	NP_378667.1:p.Thr1606Ala
NM_001287758.2:c.4867A>G	NP_001274687.1:p.Thr1623Ala
NM_001287759.2:c.4744A>G	NP_001274688.1:p.Thr1582Ala
NM_001287760.2:c.4645A>G	NP_001274689.1:p.Thr1549Ala