Canonical Allele Identifier: CA367016113

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117208-C-A
• MyVariant Identifiers: chr7:g.19156831C>A (hg19) ; chr7:g.19117208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117208C>A , CM000669.2:g.19117208C>A	GRCh38
NC_000007.13:g.19156831C>A , CM000669.1:g.19156831C>A	GRCh37
NC_000007.12:g.19123356C>A	NCBI36
NG_008114.1:g.5465G>T
NG_008114.2:g.5465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.114G>T MANE Select	ENSP00000242261.5:p.Lys38Asn
ENST00000242261.5:c.114G>T	ENSP00000242261.5:p.Lys38Asn
NM_000474.3:c.114G>T	NP_000465.1:p.Lys38Asn
XM_011515496.1:c.114G>T	XP_011513798.1:p.Lys38Asn
NR_149001.1:n.465G>T
NM_000474.4:c.114G>T MANE Select	NP_000465.1:p.Lys38Asn
NR_149001.2:n.429G>T