Canonical Allele Identifier: CA4174462
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs756440852
ExAC: 7:19156360 G / C
gnomAD v2: 7-19156360-G-C
gnomAD v4: 7-19116737-G-C
MyVariant Identifiers: chr7:g.19156360G>C (hg19) chr7:g.19116737G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116737G>C , CM000669.2:g.19116737G>C GRCh38
NC_000007.13:g.19156360G>C , CM000669.1:g.19156360G>C GRCh37
NC_000007.12:g.19122885G>C NCBI36
NG_008114.1:g.5936C>G
NG_008114.2:g.5936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.585C>G MANE Select ENSP00000242261.5:p.Ala195=
ENST00000242261.5:c.585C>G ENSP00000242261.5:p.Ala195=
ENST00000354571.5:c.382C>G
ENST00000443687.5:c.188C>G
NM_000474.3:c.585C>G NP_000465.1:p.Ala195=
XM_011515496.1:c.585C>G XP_011513798.1:p.Ala195=
NR_149001.1:n.936C>G
NM_000474.4:c.585C>G MANE Select NP_000465.1:p.Ala195=
NR_149001.2:n.900C>G
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