Canonical Allele Identifier: CA347442233
Gene: REG3G HGNC NCBI

Linked Data

dbSNP Id: rs755636124
gnomAD v3: 2-79027099-C-G
gnomAD v4: 2-79027099-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.79027099C>G , CM000664.2:g.79027099C>G GRCh38
NC_000002.11:g.79254225C>G , CM000664.1:g.79254225C>G GRCh37
NC_000002.10:g.79107733C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272324.10:c.261C>G MANE Select ENSP00000272324.5:p.Phe87Leu
ENST00000272324.9:c.261C>G ENSP00000272324.5:p.Phe87Leu
ENST00000393897.6:c.261C>G ENSP00000377475.2:p.Phe87Leu
ENST00000409471.1:c.195+268C>G ENSP00000387105.1:n.195+268C>G
ENST00000490944.1:n.815C>G
NM_001008387.2:c.261C>G NP_001008388.1:p.Phe87Leu
NM_001270040.1:c.195+268C>G NP_001256969.1:n.195+268C>G
NM_198448.3:c.261C>G NP_940850.1:p.Phe87Leu
XM_005264135.1:c.261C>G XP_005264192.1:p.Phe87Leu
XM_005264135.2:c.261C>G XP_005264192.1:p.Phe87Leu
XM_024452693.1:c.195+268C>G XP_024308461.1:n.195+268C>G
XM_024452694.1:c.195+268C>G XP_024308462.1:n.195+268C>G
NM_001008387.3:c.261C>G MANE Select NP_001008388.1:p.Phe87Leu
NM_001270040.2:c.195+268C>G NP_001256969.1:n.195+268C>G
NM_198448.4:c.261C>G NP_940850.1:p.Phe87Leu