Canonical Allele Identifier: CA155466558

Gene: TWIST1

Linked Data

• dbSNP Id: rs548746046
• gnomAD v3: 7-19116598-C-G
• gnomAD v4: 7-19116598-C-G
• MyVariant Identifiers: chr7:g.19156221C>G (hg19) ; chr7:g.19116598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19116598C>G , CM000669.2:g.19116598C>G	GRCh38
NC_000007.13:g.19156221C>G , CM000669.1:g.19156221C>G	GRCh37
NC_000007.12:g.19122746C>G	NCBI36
NG_008114.1:g.6075G>C
NG_008114.2:g.6075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.*42+73G>C MANE Select	ENSP00000242261.5:n.*42+73G>C
ENST00000242261.5:c.*42+73G>C	ENSP00000242261.5:n.*42+73G>C
ENST00000354571.5:c.448+73G>C
ENST00000443687.5:c.254+73G>C
NM_000474.3:c.*42+73G>C	NP_000465.1:n.*42+73G>C
XM_011515496.1:c.*42+73G>C	XP_011513798.1:n.*42+73G>C
NR_149001.1:n.1002+73G>C
NM_000474.4:c.*42+73G>C MANE Select	NP_000465.1:n.*42+73G>C
NR_149001.2:n.966+73G>C