Canonical Allele Identifier: CA4174540
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs761167660
gnomAD v2: 7-19156892-C-G
gnomAD v4: 7-19117269-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117269C>G , CM000669.2:g.19117269C>G GRCh38
NC_000007.13:g.19156892C>G , CM000669.1:g.19156892C>G GRCh37
NC_000007.12:g.19123417C>G NCBI36
NG_008114.1:g.5404G>C
NG_008114.2:g.5404G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.53G>C MANE Select ENSP00000242261.5:p.Ser18Thr
ENST00000242261.5:c.53G>C ENSP00000242261.5:p.Ser18Thr
NM_000474.3:c.53G>C NP_000465.1:p.Ser18Thr
XM_011515496.1:c.53G>C XP_011513798.1:p.Ser18Thr
NR_149001.1:n.404G>C
NM_000474.4:c.53G>C MANE Select NP_000465.1:p.Ser18Thr
NR_149001.2:n.368G>C