Canonical Allele Identifier: CA406805250

Gene: NTF4

Linked Data

• MyVariant Identifiers: chr19:g.49564742C>A (hg19) ; chr19:g.49061485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061485C>A , CM000681.2:g.49061485C>A	GRCh38
NC_000019.9:g.49564742C>A , CM000681.1:g.49564742C>A	GRCh37
NC_000019.8:g.54256554C>A	NCBI36
NG_016289.1:g.7383G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593537.2:c.513G>T MANE Select	ENSP00000469455.1:p.Lys171Asn
ENST00000594938.2:c.513G>T	ENSP00000512387.1:p.Lys171Asn
ENST00000595857.6:c.513G>T	ENSP00000471508.2:p.Lys171Asn
ENST00000696088.1:c.513G>T	ENSP00000512384.1:p.Lys171Asn
ENST00000696089.1:c.513G>T	ENSP00000512385.1:p.Lys171Asn
ENST00000696090.1:c.513G>T	ENSP00000512386.1:p.Lys171Asn
ENST00000696091.1:c.513G>T	ENSP00000512388.1:p.Lys171Asn
ENST00000593537.1:c.513G>T	ENSP00000469455.1:p.Lys171Asn
ENST00000599795.5:c.243+270G>T	ENSP00000470689.1:n.243+270G>T
NM_006179.4:c.513G>T	NP_006170.1:p.Lys171Asn
XM_005258962.2:c.513G>T	XP_005259019.1:p.Lys171Asn
XM_006723232.2:c.513G>T	XP_006723295.1:p.Lys171Asn
XM_011527008.1:c.543G>T	XP_011525310.1:p.Lys181Asn
XM_011527009.1:c.513G>T	XP_011525311.1:p.Lys171Asn
XM_011527010.1:c.513G>T	XP_011525312.1:p.Lys171Asn
XM_005258962.3:c.513G>T	XP_005259019.1:p.Lys171Asn
XM_006723232.3:c.513G>T	XP_006723295.1:p.Lys171Asn
XM_011527008.2:c.543G>T	XP_011525310.1:p.Lys181Asn
XM_011527009.2:c.513G>T	XP_011525311.1:p.Lys171Asn
XM_011527010.2:c.513G>T	XP_011525312.1:p.Lys171Asn
XR_001753693.1:n.558G>T
XR_001753694.1:n.558G>T
NM_001395489.1:c.513G>T	NP_001382418.1:p.Lys171Asn
NM_006179.5:c.513G>T MANE Select	NP_006170.1:p.Lys171Asn