Canonical Allele Identifier: CA360526133
Gene: NR2F1 HGNC NCBI

Linked Data

dbSNP Id: rs1489168410
gnomAD v2: 5-92921100-C-T
gnomAD v4: 5-93585394-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.93585394C>T , CM000667.2:g.93585394C>T GRCh38
NC_000005.9:g.92921100C>T , CM000667.1:g.92921100C>T GRCh37
NC_000005.8:g.92946856C>T NCBI36
NG_034119.1:g.7058C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000615873.2:c.296C>T ENSP00000481517.1:p.Ala99Val
ENST00000327111.8:c.371C>T MANE Select ENSP00000325819.3:p.Ala124Val
ENST00000647447.1:c.218C>T ENSP00000495740.1:p.Ala73Val
ENST00000327111.7:c.371C>T ENSP00000325819.3:p.Ala124Val
ENST00000615873.1:c.296C>T ENSP00000481517.1:p.Ala99Val
NM_005654.5:c.371C>T NP_005645.1:p.Ala124Val
NM_005654.6:c.371C>T MANE Select NP_005645.1:p.Ala124Val