Canonical Allele Identifier: CA508090341

Gene: NTF4

Linked Data

• dbSNP Id: rs1352275826
• gnomAD v2: 19-49564350-G-A
• gnomAD v4: 19-49061093-G-A
• MyVariant Identifiers: chr19:g.49564350G>A (hg19) ; chr19:g.49061093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061093G>A , CM000681.2:g.49061093G>A	GRCh38
NC_000019.9:g.49564350G>A , CM000681.1:g.49564350G>A	GRCh37
NC_000019.8:g.54256162G>A	NCBI36
NG_016289.1:g.7775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594938.2:c.*272C>T	ENSP00000512387.1:n.*272C>T
ENST00000595857.6:c.*272C>T	ENSP00000471508.2:n.*272C>T
ENST00000696088.1:c.*272C>T	ENSP00000512384.1:n.*272C>T
ENST00000696089.1:c.*272C>T	ENSP00000512385.1:n.*272C>T
ENST00000696090.1:c.*272C>T	ENSP00000512386.1:n.*272C>T
ENST00000696091.1:c.*272C>T	ENSP00000512388.1:n.*272C>T
ENST00000593537.1:c.905C>T	ENSP00000469455.1:n.905C>T
ENST00000599795.5:c.243+662C>T	ENSP00000470689.1:n.243+662C>T
XM_005258962.2:c.*272C>T	XP_005259019.1:n.*272C>T
XM_006723232.2:c.*272C>T	XP_006723295.1:n.*272C>T
XM_011527008.1:c.*272C>T	XP_011525310.1:n.*272C>T
XM_011527009.1:c.*272C>T	XP_011525311.1:n.*272C>T
XM_011527010.1:c.*272C>T	XP_011525312.1:n.*272C>T
XM_005258962.3:c.*272C>T	XP_005259019.1:n.*272C>T
XM_006723232.3:c.*272C>T	XP_006723295.1:n.*272C>T
XM_011527008.2:c.*272C>T	XP_011525310.1:n.*272C>T
XM_011527009.2:c.*272C>T	XP_011525311.1:n.*272C>T
XM_011527010.2:c.*272C>T	XP_011525312.1:n.*272C>T
XR_001753693.1:n.879+71C>T
XR_001753694.1:n.879+71C>T