Canonical Allele Identifier: CA2694429070

Gene: COL4A6

Linked Data

• gnomAD v4: X-108157282-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157282T>C , CM000685.2:g.108157282T>C	GRCh38
NC_000023.10:g.107400512T>C , CM000685.1:g.107400512T>C	GRCh37
NC_000023.9:g.107287168T>C	NCBI36
NG_012059.2:g.287193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4813-22A>G MANE Select	ENSP00000334733.7:n.4813-22A>G
ENST00000334504.11:c.4813-22A>G	ENSP00000334733.7:n.4813-22A>G
ENST00000372216.8:c.4816-22A>G	ENSP00000361290.4:n.4816-22A>G
ENST00000394872.6:c.4864-22A>G	ENSP00000378340.3:n.4864-22A>G
ENST00000538570.5:c.4642-22A>G	ENSP00000445236.1:n.4642-22A>G
ENST00000545689.2:c.4777-22A>G	ENSP00000443707.2:n.4777-22A>G
ENST00000621266.4:c.4741-22A>G	ENSP00000482970.1:n.4741-22A>G
NM_001287758.1:c.4864-22A>G	NP_001274687.1:n.4864-22A>G
NM_001287759.1:c.4741-22A>G	NP_001274688.1:n.4741-22A>G
NM_001287760.1:c.4642-22A>G	NP_001274689.1:n.4642-22A>G
NM_001847.3:c.4816-22A>G	NP_001838.2:n.4816-22A>G
NM_033641.3:c.4813-22A>G	NP_378667.1:n.4813-22A>G
XM_006724617.2:c.4867-22A>G	XP_006724680.1:n.4867-22A>G
XM_011530852.1:c.4795-22A>G	XP_011529154.1:n.4795-22A>G
XM_011530853.1:c.4783-22A>G	XP_011529155.1:n.4783-22A>G
XM_006724617.3:c.4867-22A>G	XP_006724680.1:n.4867-22A>G
XM_011530852.2:c.4795-22A>G	XP_011529154.1:n.4795-22A>G
XM_011530853.3:c.4783-22A>G	XP_011529155.1:n.4783-22A>G
NM_001847.4:c.4816-22A>G	NP_001838.2:n.4816-22A>G
NM_033641.4:c.4813-22A>G MANE Select	NP_378667.1:n.4813-22A>G
NM_001287758.2:c.4864-22A>G	NP_001274687.1:n.4864-22A>G
NM_001287759.2:c.4741-22A>G	NP_001274688.1:n.4741-22A>G
NM_001287760.2:c.4642-22A>G	NP_001274689.1:n.4642-22A>G