Canonical Allele Identifier: CA573437221

Gene: SCRN1

Linked Data

• dbSNP Id: rs988302837
• gnomAD v2: 7-29962309-G-C
• gnomAD v3: 7-29922693-G-C
• gnomAD v4: 7-29922693-G-C
• MyVariant Identifiers: chr7:g.29962309G>C (hg19) ; chr7:g.29922693G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29922693G>C , CM000669.2:g.29922693G>C	GRCh38
NC_000007.13:g.29962309G>C , CM000669.1:g.29962309G>C	GRCh37
NC_000007.12:g.29928834G>C	NCBI36
NG_047114.1:g.72597C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.*1264C>G MANE Select	ENSP00000242059.5:n.*1264C>G
ENST00000242059.9:c.*1264C>G	ENSP00000242059.5:n.*1264C>G
ENST00000426154.5:c.*1264C>G	ENSP00000409068.1:n.*1264C>G
NM_001145513.1:c.*1264C>G	NP_001138985.1:n.*1264C>G
NM_001145514.1:c.*1264C>G	NP_001138986.1:n.*1264C>G
NM_001145515.1:c.*1264C>G	NP_001138987.1:n.*1264C>G
NM_014766.4:c.*1264C>G	NP_055581.3:n.*1264C>G
XM_005249918.3:c.*1264C>G	XP_005249975.1:n.*1264C>G
XM_011515653.1:c.*1264C>G	XP_011513955.1:n.*1264C>G
XM_024447007.1:c.*1264C>G	XP_024302775.1:n.*1264C>G
NM_014766.5:c.*1264C>G MANE Select	NP_055581.3:n.*1264C>G
NM_001145515.2:c.*1264C>G	NP_001138987.1:n.*1264C>G