Canonical Allele Identifier: CA6583089
Gene: KRT71 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52545576G>A
GRCh37 chr12:g.52939360G>A
Revel Score:
ENST00000267119 (MANE Select) 0.252
gnomAD v2:
12:52939360 G / A
gnomAD v3:
12:52545576 G / A
gnomAD v4:
chr12-52545576-G-A
Joint Max Group AF 0.00013567 (MID)
Exomes Max Group AF 0.00014384 (MID)
ClinVar RCV:
RCV001329580
ClinVar Variation:
1028520
dbSNP:
372311616
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52545576G>A , CM000674.2:g.52545576G>A GRCh38
NC_000012.11:g.52939360G>A , CM000674.1:g.52939360G>A GRCh37
NC_000012.10:g.51225627G>A NCBI36
NG_012426.1:g.12572C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267119.6:c.1349C>T MANE Select ENSP00000267119.5:p.Pro450Leu
ENST00000267119.5:c.1349C>T ENSP00000267119.5:p.Pro450Leu
NM_033448.2:c.1349C>T NP_258259.1:p.Pro450Leu
XM_017018749.1:c.1103C>T XP_016874238.1:p.Pro368Leu
NM_033448.3:c.1349C>T MANE Select NP_258259.1:p.Pro450Leu
Search 100 bp 5'
Search 100 bp 3'