Canonical Allele Identifier: CA12863486
Gene: CLVS1 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.61496869G>T , CM000670.2:g.61496869G>T GRCh38
NC_000008.10:g.62409428G>T , CM000670.1:g.62409428G>T GRCh37
NC_000008.9:g.62571982G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000325897.5:c.978-2586G>T MANE Select ENSP00000325506.4:n.978-2586G>T
ENST00000325897.4:c.978-2586G>T ENSP00000325506.4:n.978-2586G>T
ENST00000518592.5:c.141-2586G>T ENSP00000429869.1:n.141-2586G>T
ENST00000518858.1:n.1235-2586G>T
ENST00000519846.5:c.978-2586G>T ENSP00000428402.1:n.978-2586G>T
ENST00000520712.1:c.141-2586G>T ENSP00000429544.1:n.141-2586G>T
NM_173519.2:c.978-2586G>T NP_775790.1:n.978-2586G>T
XM_011517470.1:c.1011-2586G>T XP_011515772.1:n.1011-2586G>T
XM_011517471.1:c.1011-2586G>T XP_011515773.1:n.1011-2586G>T
XM_011517472.1:c.978-2586G>T XP_011515774.1:n.978-2586G>T
XM_011517473.1:c.801-2586G>T XP_011515775.1:n.801-2586G>T
XM_017013141.2:c.978-2586G>T XP_016868630.1:n.978-2586G>T
XM_017013142.2:c.978-2586G>T XP_016868631.1:n.978-2586G>T
XM_024447079.1:c.978-2586G>T XP_024302847.1:n.978-2586G>T
NM_173519.3:c.978-2586G>T MANE Select NP_775790.1:n.978-2586G>T