Canonical Allele Identifier: CA1112434003

Gene: NRG1

Linked Data

• dbSNP Id: rs1819072737
• gnomAD v3: 8-31775848-A-T
• gnomAD v4: 8-31775848-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31775848A>T , CM000670.2:g.31775848A>T	GRCh38
NC_000008.10:g.31633364A>T , CM000670.1:g.31633364A>T	GRCh37
NC_000008.9:g.31752906A>T	NCBI36
NG_012005.1:g.141097A>T
NG_012005.2:g.141627A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000519301.6:c.37+136417A>T	ENSP00000429582.1:n.37+136417A>T
ENST00000650856.1:c.37+136417A>T	ENSP00000498216.1:n.37+136417A>T
ENST00000650866.1:c.37+136417A>T	ENSP00000499045.1:n.37+136417A>T
ENST00000651149.1:c.37+136417A>T	ENSP00000498375.1:n.37+136417A>T
ENST00000651335.1:c.71+135119A>T
ENST00000652698.1:c.37+136417A>T	ENSP00000499008.1:n.37+136417A>T
ENST00000518104.5:c.37+136417A>T	ENSP00000430053.1:n.37+136417A>T
ENST00000519301.5:c.37+136417A>T	ENSP00000429582.1:n.37+136417A>T
ENST00000520407.5:c.745+135119A>T	ENSP00000434640.1:n.745+135119A>T
ENST00000523534.5:c.304+135119A>T	ENSP00000429067.1:n.304+135119A>T
NM_001159995.1:c.37+136417A>T	NP_001153467.1:n.37+136417A>T
NM_001159999.1:c.37+136417A>T	NP_001153471.1:n.37+136417A>T
NM_001160001.1:c.37+136417A>T	NP_001153473.1:n.37+136417A>T
NM_013962.2:c.745+135119A>T	NP_039256.2:n.745+135119A>T
XM_011544512.1:c.121+135119A>T	XP_011542814.1:n.121+135119A>T
NM_001159995.2:c.37+136417A>T	NP_001153467.1:n.37+136417A>T
NM_001159999.2:c.37+136417A>T	NP_001153471.1:n.37+136417A>T
NM_001160001.2:c.37+136417A>T	NP_001153473.1:n.37+136417A>T
NM_001322201.1:c.-556+136417A>T	NP_001309130.1:n.-556+136417A>T
NM_001322202.1:c.-505+136417A>T	NP_001309131.1:n.-505+136417A>T
XM_011544512.2:c.121+135119A>T	XP_011542814.1:n.121+135119A>T
XM_017013365.2:c.121+135119A>T	XP_016868854.1:n.121+135119A>T
XM_017013366.2:c.121+135119A>T	XP_016868855.1:n.121+135119A>T
XM_017013367.1:c.121+135119A>T	XP_016868856.1:n.121+135119A>T
XM_017013371.2:c.121+135119A>T	XP_016868860.1:n.121+135119A>T
XM_017013372.2:c.121+135119A>T	XP_016868861.1:n.121+135119A>T
NM_001159995.3:c.37+136417A>T	NP_001153467.1:n.37+136417A>T
NM_001159999.3:c.37+136417A>T	NP_001153471.1:n.37+136417A>T
NM_001160001.3:c.37+136417A>T	NP_001153473.1:n.37+136417A>T
NM_001322201.2:c.-556+136417A>T	NP_001309130.1:n.-556+136417A>T
NM_001322202.2:c.-505+136417A>T	NP_001309131.1:n.-505+136417A>T
NM_013962.3:c.745+135119A>T	NP_039256.2:n.745+135119A>T