Canonical Allele Identifier: CA2593491040
Gene: FAM184B HGNC NCBI

Linked Data

dbSNP Id: rs2108952573
gnomAD v3: 4-17681022-A-G
gnomAD v4: 4-17681022-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17681022A>G , CM000666.2:g.17681022A>G GRCh38
NC_000004.11:g.17682645A>G , CM000666.1:g.17682645A>G GRCh37
NC_000004.10:g.17291743A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265018.4:c.1596+7402T>C MANE Select ENSP00000265018.3:n.1596+7402T>C
ENST00000265018.3:c.1596+7402T>C ENSP00000265018.3:n.1596+7402T>C
NM_015688.1:c.1596+7402T>C NP_056503.1:n.1596+7402T>C
XM_011513834.1:c.1596+7402T>C XP_011512136.1:n.1596+7402T>C
NM_015688.2:c.1596+7402T>C MANE Select NP_056503.1:n.1596+7402T>C
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