Canonical Allele Identifier: CA1059862141
Gene: FAM184B HGNC NCBI

Linked Data

dbSNP Id: rs1716424700
gnomAD v3: 4-17681202-G-A
gnomAD v4: 4-17681202-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17681202G>A , CM000666.2:g.17681202G>A GRCh38
NC_000004.11:g.17682825G>A , CM000666.1:g.17682825G>A GRCh37
NC_000004.10:g.17291923G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265018.4:c.1596+7222C>T MANE Select ENSP00000265018.3:n.1596+7222C>T
ENST00000265018.3:c.1596+7222C>T ENSP00000265018.3:n.1596+7222C>T
NM_015688.1:c.1596+7222C>T NP_056503.1:n.1596+7222C>T
XM_011513834.1:c.1596+7222C>T XP_011512136.1:n.1596+7222C>T
NM_015688.2:c.1596+7222C>T MANE Select NP_056503.1:n.1596+7222C>T