Canonical Allele Identifier: CA414563035

Gene: IGSF1

Linked Data

• gnomAD v4: X-131277865-C-A
• MyVariant Identifiers: chrX:g.130411839C>A (hg19) ; chrX:g.131277865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131277865C>A , CM000685.2:g.131277865C>A	GRCh38
NC_000023.10:g.130411839C>A , CM000685.1:g.130411839C>A	GRCh37
NC_000023.9:g.130239520C>A	NCBI36
NG_021190.2:g.126839G>T
NG_021190.3:g.306035G>T
NG_021190.4:g.306035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361420.8:c.2311G>T MANE Select	ENSP00000355010.3:p.Val771Phe
ENST00000370903.8:c.2326G>T	ENSP00000359940.3:p.Val776Phe
ENST00000651402.1:c.10-2988G>T
ENST00000651526.1:n.713G>T
ENST00000651556.1:c.2311G>T	ENSP00000498789.1:p.Val771Phe
ENST00000652189.1:c.2311G>T	ENSP00000498607.1:p.Val771Phe
ENST00000361420.7:c.2311G>T	ENSP00000355010.3:p.Val771Phe
ENST00000370903.7:c.2326G>T	ENSP00000359940.3:p.Val776Phe
ENST00000370904.6:c.2284G>T	ENSP00000359941.1:p.Val762Phe
ENST00000370910.5:c.2284G>T	ENSP00000359947.1:p.Val762Phe
NM_001170961.1:c.2326G>T	NP_001164432.1:p.Val776Phe
NM_001170962.1:c.2284G>T	NP_001164433.1:p.Val762Phe
NM_001555.4:c.2311G>T	NP_001546.2:p.Val771Phe
XM_011531330.1:c.2326G>T	XP_011529632.1:p.Val776Phe
XM_011531331.1:c.2326G>T	XP_011529633.1:p.Val776Phe
XM_011531332.1:c.2326G>T	XP_011529634.1:p.Val776Phe
XM_011531333.1:c.2326G>T	XP_011529635.1:p.Val776Phe
XM_011531334.1:c.2326G>T	XP_011529636.1:p.Val776Phe
XM_011531335.1:c.553G>T	XP_011529637.1:p.Val185Phe
XM_011531333.2:c.2326G>T	XP_011529635.1:p.Val776Phe
XM_011531334.2:c.2326G>T	XP_011529636.1:p.Val776Phe
NM_001555.5:c.2311G>T MANE Select	NP_001546.2:p.Val771Phe
NM_001170962.2:c.2284G>T	NP_001164433.1:p.Val762Phe
NM_001170961.2:c.2326G>T	NP_001164432.1:p.Val776Phe