Canonical Allele Identifier: CA10487484
Gene: COL4A6 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108172536C>T , CM000685.2:g.108172536C>T GRCh38
NC_000023.10:g.107415766C>T , CM000685.1:g.107415766C>T GRCh37
NC_000023.9:g.107302422C>T NCBI36
NG_012059.2:g.271939G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.3139-4G>A MANE Select ENSP00000334733.7:n.3139-4G>A
ENST00000334504.11:c.3139-4G>A ENSP00000334733.7:n.3139-4G>A
ENST00000372216.8:c.3142-4G>A ENSP00000361290.4:n.3142-4G>A
ENST00000394872.6:c.3190-4G>A ENSP00000378340.3:n.3190-4G>A
ENST00000538570.5:c.3139-4G>A ENSP00000445236.1:n.3139-4G>A
ENST00000545689.2:c.3139-4G>A ENSP00000443707.2:n.3139-4G>A
ENST00000621266.4:c.3139-4G>A ENSP00000482970.1:n.3139-4G>A
NM_001287758.1:c.3190-4G>A NP_001274687.1:n.3190-4G>A
NM_001287759.1:c.3139-4G>A NP_001274688.1:n.3139-4G>A
NM_001287760.1:c.3139-4G>A NP_001274689.1:n.3139-4G>A
NM_001847.3:c.3142-4G>A NP_001838.2:n.3142-4G>A
NM_033641.3:c.3139-4G>A NP_378667.1:n.3139-4G>A
XM_006724617.2:c.3193-4G>A XP_006724680.1:n.3193-4G>A
XM_011530852.1:c.3193-4G>A XP_011529154.1:n.3193-4G>A
XM_011530853.1:c.3109-4G>A XP_011529155.1:n.3109-4G>A
XM_011530854.1:c.3193-4G>A XP_011529156.1:n.3193-4G>A
XM_006724617.3:c.3193-4G>A XP_006724680.1:n.3193-4G>A
XM_011530852.2:c.3193-4G>A XP_011529154.1:n.3193-4G>A
XM_011530853.3:c.3109-4G>A XP_011529155.1:n.3109-4G>A
XM_011530854.2:c.3193-4G>A XP_011529156.1:n.3193-4G>A
NM_001847.4:c.3142-4G>A NP_001838.2:n.3142-4G>A
NM_033641.4:c.3139-4G>A MANE Select NP_378667.1:n.3139-4G>A
NM_001287758.2:c.3190-4G>A NP_001274687.1:n.3190-4G>A
NM_001287759.2:c.3139-4G>A NP_001274688.1:n.3139-4G>A
NM_001287760.2:c.3139-4G>A NP_001274689.1:n.3139-4G>A