Canonical Allele Identifier: CA5987183

Gene: FOLH1

Linked Data

• dbSNP Id: rs765488104
• ExAC: 11:49227622 A / G
• gnomAD v2: 11-49227622-A-G
• gnomAD v3: 11-49206070-A-G
• gnomAD v4: 11-49206070-A-G
• MyVariant Identifiers: chr11:g.49227622A>G (hg19) ; chr11:g.49206070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.49206070A>G , CM000673.2:g.49206070A>G	GRCh38
NC_000011.9:g.49227622A>G , CM000673.1:g.49227622A>G	GRCh37
NC_000011.8:g.49184198A>G	NCBI36
NG_029170.1:g.7601T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000256999.7:c.221T>C MANE Select	ENSP00000256999.2:p.Leu74Ser
ENST00000256999.6:c.221T>C	ENSP00000256999.2:p.Leu74Ser
ENST00000340334.11:c.176T>C	ENSP00000344131.7:p.Leu59Ser
ENST00000343844.8:c.-330T>C	ENSP00000344086.4:n.-330T>C
ENST00000356696.7:c.221T>C	ENSP00000349129.3:p.Leu74Ser
ENST00000525826.5:c.221T>C	ENSP00000434928.1:p.Leu74Ser
ENST00000529117.1:c.50T>C	ENSP00000431577.1:p.Leu17Ser
ENST00000529646.5:n.236T>C
ENST00000529648.1:c.*212T>C	ENSP00000431263.1:n.*212T>C
ENST00000533034.1:c.176T>C	ENSP00000431463.1:p.Leu59Ser
ENST00000533510.5:c.*133T>C	ENSP00000436569.1:n.*133T>C
NM_001014986.1:c.221T>C	NP_001014986.1:p.Leu74Ser
NM_001193471.1:c.176T>C	NP_001180400.1:p.Leu59Ser
NM_001193472.1:c.176T>C	NP_001180401.1:p.Leu59Ser
NM_001193473.1:c.-330T>C	NP_001180402.1:n.-330T>C
NM_004476.1:c.221T>C	NP_004467.1:p.Leu74Ser
XM_011519958.1:c.176T>C	XP_011518260.1:p.Leu59Ser
NM_001014986.2:c.221T>C	NP_001014986.1:p.Leu74Ser
NM_001193471.2:c.176T>C	NP_001180400.1:p.Leu59Ser
NM_001193472.2:c.176T>C	NP_001180401.1:p.Leu59Ser
NM_001193473.2:c.-330T>C	NP_001180402.1:n.-330T>C
NM_001351236.1:c.50T>C	NP_001338165.1:p.Leu17Ser
NM_004476.2:c.221T>C	NP_004467.1:p.Leu74Ser
XM_011519958.3:c.386T>C	XP_011518260.2:p.Leu129Ser
XM_017017432.1:c.386T>C	XP_016872921.1:p.Leu129Ser
XM_017017433.2:c.386T>C	XP_016872922.1:p.Leu129Ser
XM_017017434.1:c.176T>C	XP_016872923.1:p.Leu59Ser
XM_017017435.2:c.176T>C	XP_016872924.1:p.Leu59Ser
XM_017017444.2:c.-517T>C	XP_016872933.1:n.-517T>C
XM_017017445.1:c.-517T>C	XP_016872934.1:n.-517T>C
XM_017017446.1:c.-517T>C	XP_016872935.1:n.-517T>C
XM_017017447.1:c.-517T>C	XP_016872936.1:n.-517T>C
XM_017017448.1:c.-517T>C	XP_016872937.1:n.-517T>C
XM_017017449.2:c.-517T>C	XP_016872938.1:n.-517T>C
XM_017017450.2:c.-517T>C	XP_016872939.1:n.-517T>C
XM_017017451.2:c.-517T>C	XP_016872940.1:n.-517T>C
XM_024448411.1:c.-3918T>C	XP_024304179.1:n.-3918T>C
XR_001747818.1:n.616T>C
XR_001747819.1:n.448T>C
NM_004476.3:c.221T>C MANE Select	NP_004467.1:p.Leu74Ser
NM_001014986.3:c.221T>C	NP_001014986.1:p.Leu74Ser
NM_001193471.3:c.176T>C	NP_001180400.1:p.Leu59Ser
NM_001193472.3:c.176T>C	NP_001180401.1:p.Leu59Ser
NM_001193473.3:c.-330T>C	NP_001180402.1:n.-330T>C
NM_001351236.2:c.50T>C	NP_001338165.1:p.Leu17Ser