Canonical Allele Identifier: CA310010919

Gene: NLRP7 NCR1

Linked Data

• dbSNP Id: rs548105253
• gnomAD v3: 19-54934434-C-G
• gnomAD v4: 19-54934434-C-G
• MyVariant Identifiers: chr19:g.54934434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54934434C>G , CM000681.2:g.54934434C>G	GRCh38
NC_000019.8:g.60137614C>G	NCBI36
NG_008056.1:g.18072G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592784.6:c.2471+55G>C (NLRP7) MANE Select	ENSP00000468706.1:n.2471+55G>C
ENST00000328092.9:c.2387+55G>C (NLRP7)	ENSP00000329568.5:n.2387+55G>C
ENST00000340844.6:c.2471+55G>C (NLRP7)	ENSP00000339491.2:n.2471+55G>C
ENST00000586379.5:c.2471+55G>C (NLRP7)	ENSP00000468243.1:n.2471+55G>C
ENST00000588756.5:c.2471+55G>C (NLRP7)	ENSP00000467123.1:n.2471+55G>C
ENST00000590030.5:c.2471+55G>C (NLRP7)	ENSP00000465520.1:n.2471+55G>C
ENST00000592784.5:c.2471+55G>C (NLRP7)	ENSP00000468706.1:n.2471+55G>C
NM_001127255.1:c.2471+55G>C (NLRP7)	NP_001120727.1:n.2471+55G>C
NM_139176.3:c.2387+55G>C (NLRP7)	NP_631915.2:n.2387+55G>C
NM_206828.3:c.2471+55G>C (NLRP7)	NP_996611.2:n.2471+55G>C
XM_006723075.2:c.2471+55G>C (NLRP7)	XP_006723138.1:n.2471+55G>C
XM_006723076.2:c.2471+55G>C (NLRP7)	XP_006723139.1:n.2471+55G>C
XM_011526596.1:c.2555+55G>C (NLRP7)	XP_011524898.1:n.2555+55G>C
XM_011526597.1:c.2555+55G>C (NLRP7)	XP_011524899.1:n.2555+55G>C
XM_011526598.1:c.2555+55G>C (NLRP7)	XP_011524900.1:n.2555+55G>C
XM_011526599.1:c.2471+55G>C (NLRP7)	XP_011524901.1:n.2471+55G>C
XM_011526600.1:c.2471+55G>C (NLRP7)	XP_011524902.1:n.2471+55G>C
XM_011526601.1:c.2555+55G>C (NLRP7)	XP_011524903.1:n.2555+55G>C
XM_011527530.1:c.683-3702C>G (NCR1)	XP_011525832.1:n.683-3702C>G
XR_935761.1:n.2989+55G>C (NLRP7)
XM_006723075.3:c.2471+55G>C (NLRP7)	XP_006723138.1:n.2471+55G>C
XM_006723076.3:c.2471+55G>C (NLRP7)	XP_006723139.1:n.2471+55G>C
XM_011526596.2:c.2555+55G>C (NLRP7)	XP_011524898.1:n.2555+55G>C
XM_011526599.2:c.2471+55G>C (NLRP7)	XP_011524901.1:n.2471+55G>C
XM_011526601.2:c.2555+55G>C (NLRP7)	XP_011524903.1:n.2555+55G>C
XM_011527530.3:c.683-3702C>G (NCR1)	XP_011525832.1:n.683-3702C>G