Canonical Allele Identifier: CA380439533

Gene: FOLH1

Linked Data

• MyVariant Identifiers: chr11:g.49227628T>G (hg19) ; chr11:g.49206076T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.49206076T>G , CM000673.2:g.49206076T>G	GRCh38
NC_000011.9:g.49227628T>G , CM000673.1:g.49227628T>G	GRCh37
NC_000011.8:g.49184204T>G	NCBI36
NG_029170.1:g.7595A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000256999.7:c.215A>C MANE Select	ENSP00000256999.2:p.Lys72Thr
ENST00000256999.6:c.215A>C	ENSP00000256999.2:p.Lys72Thr
ENST00000340334.11:c.170A>C	ENSP00000344131.7:p.Lys57Thr
ENST00000343844.8:c.-336A>C	ENSP00000344086.4:n.-336A>C
ENST00000356696.7:c.215A>C	ENSP00000349129.3:p.Lys72Thr
ENST00000525826.5:c.215A>C	ENSP00000434928.1:p.Lys72Thr
ENST00000529117.1:c.44A>C	ENSP00000431577.1:p.Lys15Thr
ENST00000529646.5:n.230A>C
ENST00000529648.1:c.*206A>C	ENSP00000431263.1:n.*206A>C
ENST00000533034.1:c.170A>C	ENSP00000431463.1:p.Lys57Thr
ENST00000533510.5:c.*127A>C	ENSP00000436569.1:n.*127A>C
NM_001014986.1:c.215A>C	NP_001014986.1:p.Lys72Thr
NM_001193471.1:c.170A>C	NP_001180400.1:p.Lys57Thr
NM_001193472.1:c.170A>C	NP_001180401.1:p.Lys57Thr
NM_001193473.1:c.-336A>C	NP_001180402.1:n.-336A>C
NM_004476.1:c.215A>C	NP_004467.1:p.Lys72Thr
XM_011519958.1:c.170A>C	XP_011518260.1:p.Lys57Thr
NM_001014986.2:c.215A>C	NP_001014986.1:p.Lys72Thr
NM_001193471.2:c.170A>C	NP_001180400.1:p.Lys57Thr
NM_001193472.2:c.170A>C	NP_001180401.1:p.Lys57Thr
NM_001193473.2:c.-336A>C	NP_001180402.1:n.-336A>C
NM_001351236.1:c.44A>C	NP_001338165.1:p.Lys15Thr
NM_004476.2:c.215A>C	NP_004467.1:p.Lys72Thr
XM_011519958.3:c.380A>C	XP_011518260.2:p.Lys127Thr
XM_017017432.1:c.380A>C	XP_016872921.1:p.Lys127Thr
XM_017017433.2:c.380A>C	XP_016872922.1:p.Lys127Thr
XM_017017434.1:c.170A>C	XP_016872923.1:p.Lys57Thr
XM_017017435.2:c.170A>C	XP_016872924.1:p.Lys57Thr
XM_017017444.2:c.-523A>C	XP_016872933.1:n.-523A>C
XM_017017445.1:c.-523A>C	XP_016872934.1:n.-523A>C
XM_017017446.1:c.-523A>C	XP_016872935.1:n.-523A>C
XM_017017447.1:c.-523A>C	XP_016872936.1:n.-523A>C
XM_017017448.1:c.-523A>C	XP_016872937.1:n.-523A>C
XM_017017449.2:c.-523A>C	XP_016872938.1:n.-523A>C
XM_017017450.2:c.-523A>C	XP_016872939.1:n.-523A>C
XM_017017451.2:c.-523A>C	XP_016872940.1:n.-523A>C
XM_024448411.1:c.-3924A>C	XP_024304179.1:n.-3924A>C
XR_001747818.1:n.610A>C
XR_001747819.1:n.442A>C
NM_004476.3:c.215A>C MANE Select	NP_004467.1:p.Lys72Thr
NM_001014986.3:c.215A>C	NP_001014986.1:p.Lys72Thr
NM_001193471.3:c.170A>C	NP_001180400.1:p.Lys57Thr
NM_001193472.3:c.170A>C	NP_001180401.1:p.Lys57Thr
NM_001193473.3:c.-336A>C	NP_001180402.1:n.-336A>C
NM_001351236.2:c.44A>C	NP_001338165.1:p.Lys15Thr