Canonical Allele Identifier: CA9135986

Gene: INSR

Linked Data

• dbSNP Id: rs9282757
• ExAC: 19:7184392 C / A
• gnomAD v2: 19-7184392-C-A
• gnomAD v4: 19-7184381-C-A
• MyVariant Identifiers: chr19:g.7184392C>A (hg19) ; chr19:g.7184381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184381C>A , CM000681.2:g.7184381C>A	GRCh38
NC_000019.9:g.7184392C>A , CM000681.1:g.7184392C>A	GRCh37
NC_000019.8:g.7135392C>A	NCBI36
NG_008852.2:g.114620G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.909G>T MANE Select	ENSP00000303830.4:p.Gln303His
ENST00000302850.9:c.909G>T	ENSP00000303830.4:p.Gln303His
ENST00000341500.9:c.909G>T	ENSP00000342838.4:p.Gln303His
ENST00000598216.1:n.884G>T
NM_000208.2:c.909G>T	NP_000199.2:p.Gln303His
NM_000208.3:c.909G>T	NP_000199.2:p.Gln303His
NM_001079817.1:c.909G>T	NP_001073285.1:p.Gln303His
NM_001079817.2:c.909G>T	NP_001073285.1:p.Gln303His
XM_011527988.1:c.987G>T	XP_011526290.1:p.Gln329His
XM_011527989.1:c.987G>T	XP_011526291.1:p.Gln329His
XM_011527988.2:c.909G>T	XP_011526290.2:p.Gln303His
XM_011527989.3:c.909G>T	XP_011526291.2:p.Gln303His
NM_000208.4:c.909G>T MANE Select	NP_000199.2:p.Gln303His
NM_001079817.3:c.909G>T	NP_001073285.1:p.Gln303His