Canonical Allele Identifier: CA1099033063

Gene: TWIST1

Linked Data

• dbSNP Id: rs1012863789
• gnomAD v3: 7-19117418-G-C
• gnomAD v4: 7-19117418-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117418G>C , CM000669.2:g.19117418G>C	GRCh38
NC_000007.13:g.19157041G>C , CM000669.1:g.19157041G>C	GRCh37
NC_000007.12:g.19123566G>C	NCBI36
NG_008114.1:g.5255C>G
NG_008114.2:g.5255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-97C>G MANE Select	ENSP00000242261.5:n.-97C>G
ENST00000242261.5:c.-97C>G	ENSP00000242261.5:n.-97C>G
NM_000474.3:c.-97C>G	NP_000465.1:n.-97C>G
XM_011515496.1:c.-97C>G	XP_011513798.1:n.-97C>G
NR_149001.1:n.255C>G
NM_000474.4:c.-97C>G MANE Select	NP_000465.1:n.-97C>G
NR_149001.2:n.219C>G