Canonical Allele Identifier: CA93291734
Gene: FAM184B HGNC NCBI

Linked Data

dbSNP Id: rs991321569
gnomAD v3: 4-17681021-T-G
gnomAD v4: 4-17681021-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17681021T>G , CM000666.2:g.17681021T>G GRCh38
NC_000004.11:g.17682644T>G , CM000666.1:g.17682644T>G GRCh37
NC_000004.10:g.17291742T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265018.4:c.1596+7403A>C MANE Select ENSP00000265018.3:n.1596+7403A>C
ENST00000265018.3:c.1596+7403A>C ENSP00000265018.3:n.1596+7403A>C
NM_015688.1:c.1596+7403A>C NP_056503.1:n.1596+7403A>C
XM_011513834.1:c.1596+7403A>C XP_011512136.1:n.1596+7403A>C
NM_015688.2:c.1596+7403A>C MANE Select NP_056503.1:n.1596+7403A>C