Canonical Allele Identifier: CA4174511

Gene: TWIST1

Linked Data

• dbSNP Id: rs779988331
• ExAC: 7:19156642 C / T
• gnomAD v2: 7-19156642-C-T
• gnomAD v4: 7-19117019-C-T
• MyVariant Identifiers: chr7:g.19156642C>T (hg19) ; chr7:g.19117019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117019C>T , CM000669.2:g.19117019C>T	GRCh38
NC_000007.13:g.19156642C>T , CM000669.1:g.19156642C>T	GRCh37
NC_000007.12:g.19123167C>T	NCBI36
NG_008114.1:g.5654G>A
NG_008114.2:g.5654G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000242261.6:c.303G>A MANE Select	ENSP00000242261.5:p.Gln101=
ENST00000242261.5:c.303G>A	ENSP00000242261.5:p.Gln101=
ENST00000354571.5:c.100G>A
NM_000474.3:c.303G>A	NP_000465.1:p.Gln101=
XM_011515496.1:c.303G>A	XP_011513798.1:p.Gln101=
NR_149001.1:n.654G>A
NM_000474.4:c.303G>A MANE Select	NP_000465.1:p.Gln101=
NR_149001.2:n.618G>A