Canonical Allele Identifier: CA380439517

Gene: FOLH1

Linked Data

• dbSNP Id: rs1223640600
• gnomAD v2: 11-49227621-T-A
• gnomAD v3: 11-49206069-T-A
• gnomAD v4: 11-49206069-T-A
• MyVariant Identifiers: chr11:g.49227621T>A (hg19) ; chr11:g.49206069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.49206069T>A , CM000673.2:g.49206069T>A	GRCh38
NC_000011.9:g.49227621T>A , CM000673.1:g.49227621T>A	GRCh37
NC_000011.8:g.49184197T>A	NCBI36
NG_029170.1:g.7602A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256999.7:c.222A>T MANE Select	ENSP00000256999.2:p.Leu74Phe
ENST00000256999.6:c.222A>T	ENSP00000256999.2:p.Leu74Phe
ENST00000340334.11:c.177A>T	ENSP00000344131.7:p.Leu59Phe
ENST00000343844.8:c.-329A>T	ENSP00000344086.4:n.-329A>T
ENST00000356696.7:c.222A>T	ENSP00000349129.3:p.Leu74Phe
ENST00000525826.5:c.222A>T	ENSP00000434928.1:p.Leu74Phe
ENST00000529117.1:c.51A>T	ENSP00000431577.1:p.Leu17Phe
ENST00000529646.5:n.237A>T
ENST00000529648.1:c.*213A>T	ENSP00000431263.1:n.*213A>T
ENST00000533034.1:c.177A>T	ENSP00000431463.1:p.Leu59Phe
ENST00000533510.5:c.*134A>T	ENSP00000436569.1:n.*134A>T
NM_001014986.1:c.222A>T	NP_001014986.1:p.Leu74Phe
NM_001193471.1:c.177A>T	NP_001180400.1:p.Leu59Phe
NM_001193472.1:c.177A>T	NP_001180401.1:p.Leu59Phe
NM_001193473.1:c.-329A>T	NP_001180402.1:n.-329A>T
NM_004476.1:c.222A>T	NP_004467.1:p.Leu74Phe
XM_011519958.1:c.177A>T	XP_011518260.1:p.Leu59Phe
NM_001014986.2:c.222A>T	NP_001014986.1:p.Leu74Phe
NM_001193471.2:c.177A>T	NP_001180400.1:p.Leu59Phe
NM_001193472.2:c.177A>T	NP_001180401.1:p.Leu59Phe
NM_001193473.2:c.-329A>T	NP_001180402.1:n.-329A>T
NM_001351236.1:c.51A>T	NP_001338165.1:p.Leu17Phe
NM_004476.2:c.222A>T	NP_004467.1:p.Leu74Phe
XM_011519958.3:c.387A>T	XP_011518260.2:p.Leu129Phe
XM_017017432.1:c.387A>T	XP_016872921.1:p.Leu129Phe
XM_017017433.2:c.387A>T	XP_016872922.1:p.Leu129Phe
XM_017017434.1:c.177A>T	XP_016872923.1:p.Leu59Phe
XM_017017435.2:c.177A>T	XP_016872924.1:p.Leu59Phe
XM_017017444.2:c.-516A>T	XP_016872933.1:n.-516A>T
XM_017017445.1:c.-516A>T	XP_016872934.1:n.-516A>T
XM_017017446.1:c.-516A>T	XP_016872935.1:n.-516A>T
XM_017017447.1:c.-516A>T	XP_016872936.1:n.-516A>T
XM_017017448.1:c.-516A>T	XP_016872937.1:n.-516A>T
XM_017017449.2:c.-516A>T	XP_016872938.1:n.-516A>T
XM_017017450.2:c.-516A>T	XP_016872939.1:n.-516A>T
XM_017017451.2:c.-516A>T	XP_016872940.1:n.-516A>T
XM_024448411.1:c.-3917A>T	XP_024304179.1:n.-3917A>T
XR_001747818.1:n.617A>T
XR_001747819.1:n.449A>T
NM_004476.3:c.222A>T MANE Select	NP_004467.1:p.Leu74Phe
NM_001014986.3:c.222A>T	NP_001014986.1:p.Leu74Phe
NM_001193471.3:c.177A>T	NP_001180400.1:p.Leu59Phe
NM_001193472.3:c.177A>T	NP_001180401.1:p.Leu59Phe
NM_001193473.3:c.-329A>T	NP_001180402.1:n.-329A>T
NM_001351236.2:c.51A>T	NP_001338165.1:p.Leu17Phe