Canonical Allele Identifier: CA413848285

Gene: COL4A6

Linked Data

• MyVariant Identifiers: chrX:g.107400362G>C (hg19) ; chrX:g.108157132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157132G>C , CM000685.2:g.108157132G>C	GRCh38
NC_000023.10:g.107400362G>C , CM000685.1:g.107400362G>C	GRCh37
NC_000023.9:g.107287018G>C	NCBI36
NG_012059.2:g.287343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4941C>G MANE Select	ENSP00000334733.7:p.Asn1647Lys
ENST00000334504.11:c.4941C>G	ENSP00000334733.7:p.Asn1647Lys
ENST00000372216.8:c.4944C>G	ENSP00000361290.4:p.Asn1648Lys
ENST00000394872.6:c.4992C>G	ENSP00000378340.3:p.Asn1664Lys
ENST00000538570.5:c.4770C>G	ENSP00000445236.1:p.Asn1590Lys
ENST00000545689.2:c.4905C>G	ENSP00000443707.2:p.Asn1635Lys
ENST00000621266.4:c.4869C>G	ENSP00000482970.1:p.Asn1623Lys
NM_001287758.1:c.4992C>G	NP_001274687.1:p.Asn1664Lys
NM_001287759.1:c.4869C>G	NP_001274688.1:p.Asn1623Lys
NM_001287760.1:c.4770C>G	NP_001274689.1:p.Asn1590Lys
NM_001847.3:c.4944C>G	NP_001838.2:p.Asn1648Lys
NM_033641.3:c.4941C>G	NP_378667.1:p.Asn1647Lys
XM_006724617.2:c.4995C>G	XP_006724680.1:p.Asn1665Lys
XM_011530852.1:c.4923C>G	XP_011529154.1:p.Asn1641Lys
XM_011530853.1:c.4911C>G	XP_011529155.1:p.Asn1637Lys
XM_006724617.3:c.4995C>G	XP_006724680.1:p.Asn1665Lys
XM_011530852.2:c.4923C>G	XP_011529154.1:p.Asn1641Lys
XM_011530853.3:c.4911C>G	XP_011529155.1:p.Asn1637Lys
NM_001847.4:c.4944C>G	NP_001838.2:p.Asn1648Lys
NM_033641.4:c.4941C>G MANE Select	NP_378667.1:p.Asn1647Lys
NM_001287758.2:c.4992C>G	NP_001274687.1:p.Asn1664Lys
NM_001287759.2:c.4869C>G	NP_001274688.1:p.Asn1623Lys
NM_001287760.2:c.4770C>G	NP_001274689.1:p.Asn1590Lys