Canonical Allele Identifier: CA2579703185

Gene: IGSF1

Linked Data

• gnomAD v4: X-131277852-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131277852C>G , CM000685.2:g.131277852C>G	GRCh38
NC_000023.10:g.130411826C>G , CM000685.1:g.130411826C>G	GRCh37
NC_000023.9:g.130239507C>G	NCBI36
NG_021190.2:g.126852G>C
NG_021190.3:g.306048G>C
NG_021190.4:g.306048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361420.8:c.2320+4G>C MANE Select	ENSP00000355010.3:n.2320+4G>C
ENST00000370903.8:c.2335+4G>C	ENSP00000359940.3:n.2335+4G>C
ENST00000651402.1:c.10-2975G>C
ENST00000651526.1:n.722+4G>C
ENST00000651556.1:c.2320+4G>C	ENSP00000498789.1:n.2320+4G>C
ENST00000652189.1:c.2320+4G>C	ENSP00000498607.1:n.2320+4G>C
ENST00000361420.7:c.2320+4G>C	ENSP00000355010.3:n.2320+4G>C
ENST00000370903.7:c.2335+4G>C	ENSP00000359940.3:n.2335+4G>C
ENST00000370904.6:c.2293+4G>C	ENSP00000359941.1:n.2293+4G>C
ENST00000370910.5:c.2293+4G>C	ENSP00000359947.1:n.2293+4G>C
NM_001170961.1:c.2335+4G>C	NP_001164432.1:n.2335+4G>C
NM_001170962.1:c.2293+4G>C	NP_001164433.1:n.2293+4G>C
NM_001555.4:c.2320+4G>C	NP_001546.2:n.2320+4G>C
XM_011531330.1:c.2335+4G>C	XP_011529632.1:n.2335+4G>C
XM_011531331.1:c.2335+4G>C	XP_011529633.1:n.2335+4G>C
XM_011531332.1:c.2335+4G>C	XP_011529634.1:n.2335+4G>C
XM_011531333.1:c.2335+4G>C	XP_011529635.1:n.2335+4G>C
XM_011531334.1:c.2335+4G>C	XP_011529636.1:n.2335+4G>C
XM_011531335.1:c.562+4G>C	XP_011529637.1:n.562+4G>C
XM_011531333.2:c.2335+4G>C	XP_011529635.1:n.2335+4G>C
XM_011531334.2:c.2335+4G>C	XP_011529636.1:n.2335+4G>C
NM_001555.5:c.2320+4G>C MANE Select	NP_001546.2:n.2320+4G>C
NM_001170962.2:c.2293+4G>C	NP_001164433.1:n.2293+4G>C
NM_001170961.2:c.2335+4G>C	NP_001164432.1:n.2335+4G>C