Canonical Allele Identifier: CA4520167
Gene: MGAM HGNC NCBI
TAS2R38 HGNC NCBI
OR9A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2306952
ClinVar RCV Id: RCV004155295
dbSNP Id: rs144212167
ExAC: 7:141672786 C / T
gnomAD v2: 7-141672786-C-T
gnomAD v3: 7-141972986-C-T
gnomAD v4: 7-141972986-C-T
COSMIC: COSM3703154
MyVariant Identifiers: chr7:g.141672786C>T (hg19) chr7:g.141972986C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141972986C>T , CM000669.2:g.141972986C>T GRCh38
NC_000007.13:g.141672786C>T , CM000669.1:g.141672786C>T GRCh37
NC_000007.12:g.141319255C>T NCBI36
NG_016141.1:g.5788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+26989C>T (MGAM) ENSP00000419372.1:n.-3+26989C>T
ENST00000547270.1:c.704G>A (TAS2R38) MANE Select ENSP00000448219.1:p.Arg235His
NM_176817.4:c.704G>A (TAS2R38) NP_789787.4:p.Arg235His
XM_011515783.1:c.*25-13410C>T (OR9A4) XP_011514085.1:n.*25-13410C>T
NM_176817.5:c.704G>A (TAS2R38) MANE Select NP_789787.5:p.Arg235His
Search 100 bp 5'
Search 100 bp 3'