Canonical Allele Identifier: CA365489023

Gene: FABP7

Linked Data

• gnomAD v4: 6-122780405-T-C
• MyVariant Identifiers: chr6:g.123101550T>C (hg19) ; chr6:g.122780405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.122780405T>C , CM000668.2:g.122780405T>C	GRCh38
NC_000006.11:g.123101550T>C , CM000668.1:g.123101550T>C	GRCh37
NC_000006.10:g.123143249T>C	NCBI36
NG_050619.1:g.36205T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368444.8:c.188T>C MANE Select	ENSP00000357429.3:p.Ile63Thr
ENST00000356535.4:c.188T>C	ENSP00000348931.4:p.Ile63Thr
ENST00000368444.7:c.188T>C	ENSP00000357429.3:p.Ile63Thr
NM_001446.3:c.188T>C	NP_001437.1:p.Ile63Thr
XM_005266858.2:c.188T>C	XP_005266915.1:p.Ile63Thr
NM_001319039.1:c.188T>C	NP_001305968.1:p.Ile63Thr
NM_001319041.1:c.188T>C	NP_001305970.1:p.Ile63Thr
NM_001319042.1:c.176T>C	NP_001305971.1:p.Ile59Thr
NM_001446.4:c.188T>C	NP_001437.1:p.Ile63Thr
NM_001446.5:c.188T>C MANE Select	NP_001437.1:p.Ile63Thr
NM_001319041.2:c.188T>C	NP_001305970.1:p.Ile63Thr
NM_001319039.2:c.188T>C	NP_001305968.1:p.Ile63Thr
NM_001319042.2:c.176T>C	NP_001305971.1:p.Ile59Thr