Canonical Allele Identifier: CA7212541
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.60509419G>A
GRCh37 chr14:g.60976137G>A
gnomAD v2:
14:60976137 G / A
gnomAD v3:
14:60509419 G / A
gnomAD v4:
chr14-60509419-G-A
Joint Max Group AF 0.03388312 (NFE)
Genomes Max Group AF 0.03247256 (NFE)
Exomes Max Group AF 0.03390743 (NFE)
ClinVar Allele:
871974
ClinVar RCV:
RCV001111374
RCV001615116
ClinVar Variation:
882020
dbSNP:
61746410
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509419G>A , CM000676.2:g.60509419G>A GRCh38
NC_000014.8:g.60976137G>A , CM000676.1:g.60976137G>A GRCh37
NC_000014.7:g.60045890G>A NCBI36
NG_008203.1:g.5200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.21G>A (SIX6) MANE Select ENSP00000328596.5:p.Leu7=
ENST00000327720.5:c.21G>A (SIX6) ENSP00000328596.5:p.Leu7=
ENST00000556799.1:c.-144+5976C>T (C14orf39) ENSP00000451441.1:n.-144+5976C>T
NM_007374.2:c.21G>A (SIX6) NP_031400.2:p.Leu7=
NM_007374.3:c.21G>A (SIX6) MANE Select NP_031400.2:p.Leu7=
Search 100 bp 5'
Search 100 bp 3'