Canonical Allele Identifier: CA334035559

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108163036A>G , CM000685.2:g.108163036A>G	GRCh38
NC_000023.10:g.107406266A>G , CM000685.1:g.107406266A>G	GRCh37
NC_000023.9:g.107292922A>G	NCBI36
NG_012059.2:g.281439T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033641.4:c.4072T>C MANE Select	NP_378667.1:p.Ser1358Pro
ENST00000334504.12:c.4072T>C MANE Select	ENSP00000334733.7:p.Ser1358Pro
NM_001287758.1:c.4123T>C	NP_001274687.1:p.Ser1375Pro
NM_001287758.2:c.4123T>C	NP_001274687.1:p.Ser1375Pro
NM_001287759.1:c.4000T>C	NP_001274688.1:p.Ser1334Pro
NM_001287759.2:c.4000T>C	NP_001274688.1:p.Ser1334Pro
NM_001287760.1:c.3901T>C	NP_001274689.1:p.Ser1301Pro
NM_001287760.2:c.3901T>C	NP_001274689.1:p.Ser1301Pro
NM_001847.3:c.4075T>C	NP_001838.2:p.Ser1359Pro
NM_001847.4:c.4075T>C	NP_001838.2:p.Ser1359Pro
NM_033641.3:c.4072T>C	NP_378667.1:p.Ser1358Pro
ENST00000334504.11:c.4072T>C	ENSP00000334733.7:p.Ser1358Pro
ENST00000372216.8:c.4075T>C	ENSP00000361290.4:p.Ser1359Pro
ENST00000394872.6:c.4123T>C	ENSP00000378340.3:p.Ser1375Pro
ENST00000487645.1:n.563T>C
ENST00000538570.5:c.3901T>C	ENSP00000445236.1:p.Ser1301Pro
ENST00000545689.2:c.4036T>C	ENSP00000443707.2:p.Ser1346Pro
ENST00000621266.4:c.4000T>C	ENSP00000482970.1:p.Ser1334Pro
XM_006724617.2:c.4126T>C	XP_006724680.1:p.Ser1376Pro
XM_006724617.3:c.4126T>C	XP_006724680.1:p.Ser1376Pro
XM_011530852.1:c.4054T>C	XP_011529154.1:p.Ser1352Pro
XM_011530852.2:c.4054T>C	XP_011529154.1:p.Ser1352Pro
XM_011530853.1:c.4042T>C	XP_011529155.1:p.Ser1348Pro
XM_011530853.3:c.4042T>C	XP_011529155.1:p.Ser1348Pro